nih-gov/pubmed.ncbi.nlm.nih.gov/38709155/index.html

3914 lines
No EOL
154 KiB
HTML
Raw Blame History

This file contains ambiguous Unicode characters

This file contains Unicode characters that might be confused with other characters. If you think that this is intentional, you can safely ignore this warning. Use the Escape button to reveal them.

<!DOCTYPE html>
<html lang="en" >
<head itemscope itemtype="http://schema.org/WebPage" prefix="og: http://ogp.me/ns#" >
<meta charset="UTF-8">
<meta http-equiv="X-UA-Compatible" content="IE=edge">
<!-- Mobile properties -->
<meta name="HandheldFriendly" content="True">
<meta name="MobileOptimized" content="320">
<meta name="viewport" content="width=device-width, initial-scale=1.0">
<link rel="preconnect" href="https://cdn.ncbi.nlm.nih.gov">
<link rel="preconnect" href="https://www.ncbi.nlm.nih.gov">
<link rel="preconnect" href="https://www.google-analytics.com">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.ba8099dd2df4.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.452c70ce66f7.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.7bf600913d6e.css" type="text/css">
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.0bfa59184c7a.css" type="text/css">
<title>Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature - PubMed</title>
<link rel="preload" as="font" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/uswds/dist/fonts/merriweather-bold-webfont.woff2" type="font/woff2" crossorigin />
<!-- Favicons -->
<link rel="shortcut icon" type="image/ico" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.ico" />
<link rel="icon" type="image/png" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.png" />
<!-- 192x192, as recommended for Android
http://updates.html5rocks.com/2014/11/Support-for-theme-color-in-Chrome-39-for-Android
-->
<link rel="icon" type="image/png" sizes="192x192" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-192.png" />
<!-- 57x57 (precomposed) for iPhone 3GS, pre-2011 iPod Touch and older Android devices -->
<link rel="apple-touch-icon-precomposed" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-57.png">
<!-- 72x72 (precomposed) for 1st generation iPad, iPad 2 and iPad mini -->
<link rel="apple-touch-icon-precomposed" sizes="72x72" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-72.png">
<!-- 114x114 (precomposed) for iPhone 4, 4S, 5 and post-2011 iPod Touch -->
<link rel="apple-touch-icon-precomposed" sizes="114x114" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-114.png">
<!-- 144x144 (precomposed) for iPad 3rd and 4th generation -->
<link rel="apple-touch-icon-precomposed" sizes="144x144" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-144.png">
<!-- For Pinger + Google Optimize integration (NS-820) -->
<meta name="ncbi_sg_optimize_id" content="">
<!-- Mobile browser address bar color -->
<meta name="theme-color" content="#20558a">
<!-- Preserve the Referrer when going from HTTPS to HTTP -->
<meta name="referrer" content="origin-when-cross-origin">
<meta name="ncbi_pinger_gtm_track" content="true"/>
<!-- Logging params: Pinger defaults -->
<meta name="ncbi_app" content="pubmed" />
<meta name="ncbi_db" content="pubmed" />
<meta name="ncbi_phid" content="D0740001F8E8CB45000033DEABA78262.1.m_6" />
<meta name="ncbi_pinger_stat_url" content="https://www.ncbi.nlm.nih.gov/stat" />
<meta name="log_category" content="literature" />
<meta name="ncbi_cost_center" content="pubmed" />
<!-- Logging params: Pinger custom -->
<meta name="ncbi_pdid" content="abstract" />
<meta name="log_op" content="retrieve" />
<meta name="uid" content="38709155" />
<meta name="ncbi_uid" content="38709155" />
<meta name="log_displayeduids" content="38709155" />
<meta name="log_source_db" content="pubmed" />
<meta name="log_icons_present" content="true" />
<meta name="ncbi_search_id" content="UqrrrwbuuO0kkiHFoezC5A:199cac52508b46655de381b196b11a4c" />
<meta name="ncbi_adj_nav_search_id" content="57Z7e74Z_5w_mronNzGfkw:199cac52508b46655de381b196b11a4c" />
<!-- Social meta tags for unfurling urls -->
<meta name="description" content="Aymé-Gripp syndrome (AYGRPS) is a multisystemic disorder caused by a subset of pathogenic variants in the MAF gene. Major clinical features include bilateral early cataracts, sensorineural hearing loss (SNHL), and a characteristic facial appearance along with variable neurodevelopmental delay. Peric …"><meta name="keywords" content="pmid:38709155, doi:10.1002/ajmg.a.63586, Case Reports, Review, Arianna Esposito, Marcello Niceta, Marco Alfonso Perrone, Cataract / diagnosis, Cataract / genetics, Cataract / pathology, Developmental Disabilities / diagnosis, Developmental Disabilities / genetics, Developmental Disabilities / pathology, Female, Hearing Loss, Sensorineural / diagnosis, Hearing Loss, Sensorineural / genetics, Hearing Loss, Sensorineural / pathology, Humans, Infant, Newborn, Pericardial Effusion* / diagnosis, Pericardial Effusion* / pathology, Phenotype, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/38709155/"><meta property="og:description" content="Aymé-Gripp syndrome (AYGRPS) is a multisystemic disorder caused by a subset of pathogenic variants in the MAF gene. Major clinical features include bilateral early cataracts, sensorineural hearing loss (SNHL), and a characteristic facial appearance along with variable neurodevelopmental delay. Peric …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/38709155/"><meta name="twitter:description" content="Aymé-Gripp syndrome (AYGRPS) is a multisystemic disorder caused by a subset of pathogenic variants in the MAF gene. Major clinical features include bilateral early cataracts, sensorineural hearing loss (SNHL), and a characteristic facial appearance along with variable neurodevelopmental delay. Peric …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
<!-- OpenSearch XML -->
<link rel="search" type="application/opensearchdescription+xml" href="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/opensearch.xml" title="PubMed search">
<!-- Disables severely broken elements when no JS -->
<noscript>
<link rel="stylesheet" type="text/css" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/no-script.css">
</noscript>
<meta name="citation_title" content="Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature">
<meta name="citation_authors" content="Esposito A;Niceta M;Novelli A;Magliozzi M;Parlapiano G;Baban A;Perrone MA;">
<meta name="citation_date" content="2024 Sep">
<meta name="citation_publisher" content="Am J Med Genet A">
<meta name="citation_journal_title" content="American journal of medical genetics. Part A">
<meta name="citation_pmid" content="38709155">
<meta name="citation_abstract_html_url" content="https://pubmed.ncbi.nlm.nih.gov/38709155/">
<meta name="citation_volume" content="194">
<meta name="citation_issue" content="9">
<meta name="citation_doi" content="10.1002/ajmg.a.63586">
<meta name="citation_issn" content="1552-4833">
<link rel="canonical" href="https://pubmed.ncbi.nlm.nih.gov/38709155/" />
</head>
<body >
<noscript>
<div class="no-script-banner" id="no-script-banner">
<div class="warning-message">
<div class="warning-message-text">
This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!
</div>
</div>
</div>
</noscript>
<div class="no-session-banner" id="no-session-banner" hidden>
<div class="warning-message">
<div class="warning-message-text">
Clipboard, Search History, and several other advanced features are temporarily unavailable.
</div>
<button class="close-banner-button"
title="Close Clipboard and Search History not available warning banner"
ref="linksrc=close_no_session_banner"
aria-controls="no-session-banner"
aria-label="Close Clipboard and Search History not available warning banner"
aria-expanded="true">
</button>
</div>
</div>
<a class="usa-skipnav" href="#article-details">
Skip to main page content
</a>
<!-- ========== BEGIN HEADER ========== -->
<section class="usa-banner">
<div class="usa-accordion">
<header class="usa-banner-header">
<div class="usa-grid usa-banner-inner">
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
<p>An official website of the United States government</p>
<button
class="usa-accordion-button usa-banner-button"
aria-expanded="false"
aria-controls="gov-banner-top"
>
<span class="usa-banner-button-text">Here's how you know</span>
</button>
</div>
</header>
<div
class="usa-banner-content usa-grid usa-accordion-content"
id="gov-banner-top"
>
<div class="usa-banner-guidance-gov usa-width-one-half">
<img
class="usa-banner-icon usa-media_block-img"
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg"
alt="Dot gov"
/>
<div class="usa-media_block-body">
<p>
<strong>The .gov means its official.</strong>
<br />
Federal government websites often end in .gov or .mil. Before
sharing sensitive information, make sure youre on a federal
government site.
</p>
</div>
</div>
<div class="usa-banner-guidance-ssl usa-width-one-half">
<img
class="usa-banner-icon usa-media_block-img"
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg"
alt="Https"
/>
<div class="usa-media_block-body">
<p>
<strong>The site is secure.</strong>
<br />
The <strong>https://</strong> ensures that you are connecting to the
official website and that any information you provide is encrypted
and transmitted securely.
</p>
</div>
</div>
</div>
</div>
</section>
<div class="usa-overlay"></div>
<header class="ncbi-header" role="banner" data-section="Header">
<div class="usa-grid">
<div class="usa-width-one-whole">
<div class="ncbi-header__logo">
<a href="https://www.ncbi.nlm.nih.gov/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
</a>
</div>
<div class="ncbi-header__account">
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
<button id="account_info" class="header-button" style="display:none"
aria-controls="account_popup">
<span class="fa fa-user" aria-hidden="true"></span>
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
<span class="sr-only">Show account info</span>
</button>
</div>
<div class="ncbi-popup-anchor">
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
<div class="ncbi-popup-head">
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu"><span class="fa fa-times"></span><span class="usa-sr-only">Close</span></button>
<h4>Account</h4>
</div>
<div class="account-user-info">
Logged in as:<br/>
<b><span class="username" id="uname_long">username</span></b>
</div>
<div class="account-links">
<ul class="usa-unstyled-list">
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
</ul>
</div>
</div>
</div>
</div>
</div>
</header>
<div role="navigation" aria-label="access keys">
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
</div>
<section data-section="Alerts">
<div class="ncbi-alerts-placeholder"></div>
</section>
<!-- ========== END HEADER ========== -->
<a id="maincontent" aria-label="Main page content below" role="navigation"></a>
<input type="hidden" name="csrfmiddlewaretoken" value="wlGDeGbuAwHhdkPM15IZrMDgziU8BlfUN8qIRwEQa7uL7LVCEol1VU9U7mCkuWNe">
<form action="/" method="get" autocomplete="off" class="usa-search usa-search-big search-form content-page-layout" id="search-form" role="search">
<div class="inner-wrap">
<a class="pubmed-logo"
aria-label="Pubmed Logo"
href="/"
data-ga-category="featured_link"
data-ga-action="pubmed_logo">
<img src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/images/pubmed-logo-blue.svg" alt="pubmed logo" />
</a>
<a href="#" class="search-input-trigger" data-alt-title="Hide search bar" title="Show search bar" aria-label="Show search bar">
</a>
<div role="search" class="search-input">
<div class="form-field ">
<label class="usa-sr-only" for="id_term">
Search:
</label>
<input
type="search"
name="term"
data-skip-ie-scroll-to-top=""
data-replace-term-with-exact=""
data-exact-query=""
placeholder=""
class="term-input"
required="required"
id="id_term"/><a href="#" class="clear-btn" aria-label="Clear search input" title="Clear search input" role="button" data-pinger-ignore></a><button type="submit" class="search-btn" aria-label="Search" disabled data-pinger-ignore><span class="usa-search-submit-text">Search</span></button>
</div>
</div>
<!-- Create alert and Create RSS are buttons that look like links -->
<!-- Better for them to look like buttons but no space -->
<div class="search-links-wrapper content-page-layout">
<div class="search-links">
<a href="/advanced/"
class="search-input-link adv-search-link"
data-ga-category="featured_link"
data-ga-action="adv_search">Advanced</a>
<a href="/clipboard/"
class="search-input-link clipboard-link hidden"
data-ga-category="featured_link"
data-ga-action="clipboard">
Clipboard <span class="amount-in-clipboard"></span>
</a>
</div>
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
<a href="/help/"
data-ga-category="featured_link"
data-ga-action="user_guide">
User Guide
</a>
</span>
</div>
</div>
</form>
<div id="article-page-header">
<div id="article-top-actions-bar" class="article-top-actions-bar">
<div class="inner-wrap">
<div class="actions-container">
<div class="return-to-search">
</div>
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
<button id="save-results-panel-trigger"
type="button"
class="save-results save-results-panel-trigger"
aria-expanded="false"
aria-controls="save-action-panel"
data-ga-category="save_share"
data-ga-action="save"
data-ga-label="open">
Save
</button><button id="email-results-panel-trigger"
type="button"
class="email-results email-results-panel-trigger"
aria-expanded="false"
aria-controls="email-action-panel"
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="open">
Email
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
type="button"
class="trigger more-actions-trigger"
ref="linksrc=show_moreactions_btn"
aria-label="Send to"
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
href="#"
role="button"
data-ga-category="save_share"
data-ga-action="clipboard"
data-ga-label="send">
Clipboard
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F38709155%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F38709155%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
</div>
<div class="display-options" data-format-key="format"
data-default-format-value="abstract"
data-current-format-value="abstract" role="region">
<button
class="trigger usa-button"
title="Change format"
data-ga-category="display_options"
data-ga-action="display_options_dialog">
<span class="button-label">Display options</span>
</button>
<div class="dropdown" hidden>
<div class="title">
Display options
</div>
<div class="content">
<div class="format-container">
<span class="option-label">
Format
</span>
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
<option value="abstract">Abstract</option>
<option value="pubmed">PubMed</option>
<option value="pmid">PMID</option>
</select>
</div>
</div>
</div>
</div>
<input type="hidden" name="csrfmiddlewaretoken" value="wlGDeGbuAwHhdkPM15IZrMDgziU8BlfUN8qIRwEQa7uL7LVCEol1VU9U7mCkuWNe">
</div>
</div>
</div>
<div id="article-panels-container" class="article-panels-container">
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Save citation to file
</h2>
<form id="save-action-panel-form"
class="action-panel-content action-form"
action="/results-export-ids/"
data-by-search-action="/results-export-search-data/"
data-by-ids-action="/results-export-ids/"
method="post"
data-by-search-method="post"
data-by-ids-method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="wlGDeGbuAwHhdkPM15IZrMDgziU8BlfUN8qIRwEQa7uL7LVCEol1VU9U7mCkuWNe">
<div class="action-panel-control-wrap">
<label for="save-action-format" class="action-panel-label">
Format:
</label>
<select id="save-action-format" name="results-format" class="action-panel-selector">
<option value="summary-text">Summary (text)</option>
<option value="pubmed-text">PubMed</option>
<option value="pmid">PMID</option>
<option value="abstract">Abstract (text)</option>
<option value="csv">CSV</option>
</select>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Saving..."
data-ga-category="save_share"
data-ga-action="save"
data-ga-label="save">
Create file
</button>
<button class="action-panel-cancel"
aria-label="Close 'Save citations to file' panel"
ref="linksrc=close_save_panel"
aria-controls="save-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="save"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="email-action-panel"
class="email-action-panel action-panel"
aria-hidden="true"
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
data-recaptcha-enabled="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Email citation
</h2>
<form id="email-action-panel-form"
class="action-panel-content action-form"
action="/send-email/"
data-by-search-action="/results-export-email-by-search-data/"
data-by-ids-action="/send-email/"
data-by-search-method="post"
data-by-ids-method="post"
method="post"
>
<input type="hidden" name="csrfmiddlewaretoken" value="wlGDeGbuAwHhdkPM15IZrMDgziU8BlfUN8qIRwEQa7uL7LVCEol1VU9U7mCkuWNe">
<div class="action-panel-control-wrap">
<span class="action-panel-label">
Subject:
</span>
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 38709155 - PubMed</span>
<input type="hidden" name="email-subject" value="1 selected item: 38709155"/>
<input type="hidden" name="email-subject-hash" value="31f3f70652ce4e475c777093b900403b3bd4aa4bdb7b12255a7c0bf8660286d7"/>
</div>
<div class="action-panel-control-wrap">
<label for="email-to" class="action-panel-label required-field-asterisk">
To:
</label>
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
</div>
<div class="action-panel-control-wrap">
<label for="email-from" class="action-panel-label">
From:
</label>
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
</div>
<div class="action-panel-control-wrap">
<label for="email-citation-format" class="action-panel-label">
Format:
</label>
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
<option selected="selected" value="summary">Summary</option>
<option value="summary-text">Summary (text)</option>
<option value="abstract">Abstract</option>
<option value="abstract-text">Abstract (text)</option>
</select>
</div>
<div class="include-supplemental-container">
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
</div>
<div class="form-field recaptcha ">
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
</div>
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="send">
Send email
</button>
<button class="action-panel-cancel"
aria-label="Close 'Email citations' panel"
ref="linksrc=close_email_panel"
aria-controls="email-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="cancel">
Cancel
</button>
</div>
<input type="hidden" name="email-search-details" value="" />
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
</form>
</div>
</div>
<div id="collections-action-panel"
class="collections-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-collections-open-panel-enabled="false"
data-collections-open-panel-url-hash="#open-collections-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to Collections
</h3>
<form id="collections-action-panel-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-myncbi-max-collection-name-length="100"
data-add-to-collection-max-amount="1000"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
<input type="hidden" name="csrfmiddlewaretoken" value="wlGDeGbuAwHhdkPM15IZrMDgziU8BlfUN8qIRwEQa7uL7LVCEol1VU9U7mCkuWNe">
<div class="choice-group" role="radiogroup">
<ul class="radio-group-items">
<li>
<input type="radio"
id="collections-action-panel-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_new">
<label for="collections-action-panel-new">Create a new collection</label>
</li>
<li>
<input type="radio"
id="collections-action-panel-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_existing">
<label for="collections-action-panel-existing">Add to an existing collection</label>
</li>
</ul>
</div>
<div class="controls-wrapper">
<div class="action-panel-control-wrap new-collections-controls">
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label>
<input
type="text"
name="add-to-new-collection"
id="collections-action-panel-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="save_share"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection">
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div>
</div>
<div class="action-panel-control-wrap existing-collections-controls">
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
Choose a collection:
</label>
<select id="collections-action-panel-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="save_share"
data-ga-action="select_collection"
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
</select>
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br>
<a href="#">Please try again</a>
</div>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="add">
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="bibliography-action-panel"
class="bibliography-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-bibliography-open-panel-enabled="false"
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to My Bibliography
</h3>
<form id="bibliography-action-panel-form"
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-add-to-bibliography-max-amount="100"
data-add-to-bibliography-batch-size="10"
data-bibliography-delegates-url="/list-bibliography-delegates/"
data-add-to-bibliography-url="/add-to-bibliography/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
<input type="hidden" name="csrfmiddlewaretoken" value="wlGDeGbuAwHhdkPM15IZrMDgziU8BlfUN8qIRwEQa7uL7LVCEol1VU9U7mCkuWNe">
<div class="action-panel-control-wrap bibliographies-controls">
<div class="choice-group">
<ul class="bibliographies-action-add radio-group-items">
<li>
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
<label for="my-bibliography">My Bibliography</label>
</li>
</ul>
</div>
</div>
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your delegates due to an error<br>
<a href="#">Please try again</a>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore>
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to bibliography' panel"
ref="linksrc=close_bibliography_panel"
aria-controls="bibliography-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="mybib"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
data-saved-search-open-panel-enabled="false"
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your saved search
</h2>
<form id="saved-search-action-panel-form"
class="saved-search-action-panel-form action-panel-content action-form"
data-create-saved-search-url="/create-saved-search/"
data-try-search-terms-url="/try-search-term/"
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
<input type="hidden" name="csrfmiddlewaretoken" value="wlGDeGbuAwHhdkPM15IZrMDgziU8BlfUN8qIRwEQa7uL7LVCEol1VU9U7mCkuWNe">
<div class="action-panel-control-wrap">
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
Name of saved search:
</label>
<input maxlength="200"
type="text"
name="saved-search-name"
id="saved-search-name"
class="saved-search-name"
value=""
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
Search terms:
</label>
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
</div>
<div class="test-search-term-wrap">
<a href="#" class="try-search-term">Test search terms</a>
</div>
<div class="choice-group action-panel-extra-margin-top">
<span class="action-panel-label" id="fieldset-label">
Would you like email updates of new search results?
</span>
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
<ul class="radio-group-items">
<li>
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
</li>
<li>
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
<label for="saved-search-alert-no" class="action-panel-label">No</label>
</li>
</ul>
</fieldset>
</div>
<div class="alert-schedule-wrap">
<div class="action-panel-control-wrap">
<label class="action-panel-label">
Email:
</label>
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
</div>
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="saved-search-frequency" class="action-panel-label">
Frequency:
</label>
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
<option value="monthly">Monthly</option>
<option value="weekly">Weekly</option>
<option value="daily">Daily</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-monthly-additional">
<label for="saved-search-monthly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
<option value="Sunday">The first Sunday</option>
<option value="Monday">The first Monday</option>
<option value="Tuesday">The first Tuesday</option>
<option value="Wednesday">The first Wednesday</option>
<option value="Thursday">The first Thursday</option>
<option value="Friday">The first Friday</option>
<option value="Saturday">The first Saturday</option>
<option value="day">The first day</option>
<option value="weekday">The first weekday</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-weekly-additional">
<label for="saved-search-weekly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
<option value="Sunday">Sunday</option>
<option value="Monday">Monday</option>
<option value="Tuesday">Tuesday</option>
<option value="Wednesday">Wednesday</option>
<option value="Thursday">Thursday</option>
<option value="Friday">Friday</option>
<option value="Saturday">Saturday</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-report" class="action-panel-label">
Report format:
</label>
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
<option value="DocSum">Summary</option>
<option value="DocSumText">Summary (text)</option>
<option value="Abstract">Abstract</option>
<option value="AbstractText">Abstract (text)</option>
<option value="MEDLINE">PubMed</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-amount" class="action-panel-label">
Send at most:
</label>
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
<option value="1">1 item</option>
<option value="5" selected>5 items</option>
<option value="10">10 items</option>
<option value="20">20 items</option>
<option value="50">50 items</option>
<option value="100">100 items</option>
<option value="200">200 items</option>
</select>
</div>
<div>
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
Send even when there aren't any new results
</label>
</div>
<div class="action-panel-control-wrap option-text-in-email-wrap">
<label for="saved-search-email-text" class="action-panel-label">
Optional text in email:
</label>
<textarea name="saved-search-email-text"
id="saved-search-email-text"
class="saved-search-email-text"></textarea>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Saving..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Save
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your saved search' panel"
ref="linksrc=close_saved_search_panel"
aria-controls="saved-search-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Create a file for external citation management software
</h2>
<form id="citation-manager-action-panel-form"
class="action-panel-content action-form"
action="/results-export-ids/"
data-by-search-action="/results-export-search-data/"
data-by-ids-action="/results-export-ids/"
method="post"
data-by-search-method="post"
data-by-ids-method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="wlGDeGbuAwHhdkPM15IZrMDgziU8BlfUN8qIRwEQa7uL7LVCEol1VU9U7mCkuWNe">
<input name="results-format" type="hidden" value="pubmed"/>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="save">
Create file
</button>
<button class="action-panel-cancel"
aria-label="Close 'Send citations to citation manager' panel"
ref="linksrc=close_citation_manager_panel"
aria-controls="citation-manager-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your RSS Feed
</h2>
<form id="rss-action-panel-form"
class="rss-action-panel-form action-panel-content action-form"
data-create-rss-feed-url="/create-rss-feed-url/"
data-search-form-term-value="">
<input type="hidden" name="csrfmiddlewaretoken" value="wlGDeGbuAwHhdkPM15IZrMDgziU8BlfUN8qIRwEQa7uL7LVCEol1VU9U7mCkuWNe">
<div class="action-panel-control-wrap">
<label for="rss-name" class="action-panel-label required-field-asterisk">
Name of RSS Feed:
</label>
<input maxlength="200"
placeholder="Name"
type="text"
name="rss-name"
id="rss-name"
class="rss-name"
value=''
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="rss-limit-wrap">
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="rss-limit" class="action-panel-label">
Number of items displayed:
</label>
<select id="rss-limit" class="no-border-panel-selector rss-limit">
<option value="5">5</option>
<option value="10">10</option>
<option value="15" selected="selected">15</option>
<option value="20">20</option>
<option value="50">50</option>
<option value="100">100</option>
</select>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Creating..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Create RSS
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your RSS' panel"
ref="linksrc=close_rss_panel"
aria-controls="rss-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
<div class="action-panel-control-wrap rss-link-copy-wrap">
<label for="rss-link" class="usa-sr-only">RSS Link</label>
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
<button
type="button"
disabled
class="rss-link-copy-button disabled"
data-ga-category="save_share"
data-ga-action="rss"
data-ga-label="copy">
Copy
</button>
</div>
</form>
</div>
</div>
</div>
</div>
<div class="article-page" id="article-page" data-article-pmid="38709155">
<aside class="page-sidebar">
<div class="inner-wrap">
<div class="full-text-links">
<div class="full-view">
<h3 class="title">
Full text links
</h3>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://doi.org/10.1002/ajmg.a.63586"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3058&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=38709155&amp;db=pubmed&amp;nlmid=101235741"
title="See full text options at Wiley"
data-ga-category="full_text"
data-ga-action="Wiley"
data-ga-label="38709155"
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--media.wiley.com-assets-7388-69-wiley-full-text.png" alt="Wiley full text link"><span class="text">
Wiley
</span></a>
</div>
</div>
<div class="short-view">
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
Full text links
</a>
</div>
</div>
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
aria-label="Open dialog with citation text in different styles"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="open"
data-all-citations-url="/38709155/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/38709155/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="38709155" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
aria-label="Save article in MyNCBI collections."
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_button"
data-collections-open-dialog-enabled="false"
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F38709155%2F%23open-collections-dialog"
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
class="dialog collections-dialog"
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-myncbi-max-collection-name-length="100"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="wlGDeGbuAwHhdkPM15IZrMDgziU8BlfUN8qIRwEQa7uL7LVCEol1VU9U7mCkuWNe"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
id="collections-action-dialog-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
id="collections-action-dialog-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label><input
type="text"
name="add-to-new-collection"
id="collections-action-dialog-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="collections_button"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
Choose a collection:
</label><select id="collections-action-dialog-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="collections_button"
data-ga-action="select_collection"
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="add">
Add
</button><button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="cancel">
Cancel
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
title="Open dialog with more actions to take"
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
data-default-format-value="abstract"
data-current-format-value="abstract" role="region"><button
class="trigger usa-button"
title="Change format"
data-ga-category="display_options"
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
Display options
</div><div class="content"><div class="format-container"><span class="option-label">
Format
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="sidebar-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
<div class="social-sharing">
<h3 class="title">
Share
</h3>
<ul class="social-sharing-links usa-unstyled-list">
<li>
<a href="http://twitter.com/intent/tweet?text=Massive%20pericardial%20effusion%20in%20an%20infant%20with%20Aym%C3%A9-Gripp%20syndrome%3A%20A%20case%20report%20and%20review%20of%20the%20literature%20https%3A//pubmed.ncbi.nlm.nih.gov/38709155/"
class="share-link share-link-twitter"
rel="noreferrer noopener"
target="Pubmed-Social-Media-Share-Popup"
title="Share article on Twitter"
data-ga-category="save_share"
data-ga-action="social"
data-ga-label="twitter"></a>
</li>
<li>
<a href="http://www.facebook.com/sharer/sharer.php?u=https%3A//pubmed.ncbi.nlm.nih.gov/38709155/"
class="share-link share-link-facebook"
rel="noreferrer noopener"
target="Pubmed-Social-Media-Share-Popup"
title="Share article on Facebook"
data-ga-category="save_share"
data-ga-action="social"
data-ga-label="fb"></a>
</li>
<li>
<div class="share-permalink">
<button class="trigger"
title="Show article permalink"
ref="linksrc=show_permalink_btn">
</button>
<div class="dropdown" hidden>
<div class="title">
Permalink
</div>
<div class="content">
<input type="text"
class="permalink-text"
value="https://pubmed.ncbi.nlm.nih.gov/38709155/"
aria-label="Article permalink"/><button class="permalink-copy-button usa-button-primary"
title="Copy article permalink"
data-ga-category="save_share"
data-ga-action="link"
data-ga-label="copy_link"><span class="button-title">Copy</span></button>
</div>
</div>
</div>
</li>
</ul>
</div>
<nav class="page-navigator" role="navigation" aria-label="Page navigation">
<div class="full-view">
<h3 class="title">
Page navigation
</h3>
<ul class="items-list">
<li class="heading ">
<a href="#heading"
aria-label="navigate to Title &amp; authors section"
data-ga-category="page_nav"
data-ga-action="heading">
Title &amp; authors
</a>
</li>
<li class="abstract ">
<a href="#abstract"
aria-label="navigate to Abstract section"
data-ga-category="page_nav"
data-ga-action="abstract">
Abstract
</a>
</li>
<li class="similar ">
<a href="#similar"
aria-label="navigate to Similar articles section"
data-ga-category="page_nav"
data-ga-action="similar">
Similar articles
</a>
</li>
<li class="references ">
<a href="#references"
aria-label="navigate to References section"
data-ga-category="page_nav"
data-ga-action="references">
References
</a>
</li>
<li class="publication-types ">
<a href="#publication-types"
aria-label="navigate to Publication types section"
data-ga-category="page_nav"
data-ga-action="publication-types">
Publication types
</a>
</li>
<li class="mesh-terms ">
<a href="#mesh-terms"
aria-label="navigate to MeSH terms section"
data-ga-category="page_nav"
data-ga-action="mesh-terms">
MeSH terms
</a>
</li>
<li class="related-links ">
<a href="#related-links"
aria-label="navigate to Related information section"
data-ga-category="page_nav"
data-ga-action="related-links">
Related information
</a>
</li>
<li class="linkout ">
<a href="#linkout"
aria-label="navigate to LinkOut - more resources section"
data-ga-category="page_nav"
data-ga-action="linkout">
LinkOut - more resources
</a>
</li>
</ul>
</div>
<select class="short-view" autocomplete="off" title="navigate to selected section" aria-label="Navigate to page section">
<option value="heading">Title &amp; authors</option>
<option value="abstract">Abstract</option>
<option value="similar">Similar articles</option>
<option value="references">References</option>
<option value="publication-types">Publication types</option>
<option value="mesh-terms">MeSH terms</option>
<option value="related-links">Related information</option>
<option value="linkout">LinkOut - more resources</option>
</select>
</nav>
</div>
</aside>
<main class="article-details" id="article-details">
<!-- "Filters applied" shows only when page is redirected from search -->
<!-- because search found one result -->
<header class="heading" id="heading">
<div class="full-view" id="full-view-heading">
<div class="article-citation">
<div class="publication-type" >Review</div>
<div class="article-source">
<div class="journal-actions dropdown-block"><button id="full-view-journal-trigger"
class="journal-actions-trigger trigger"
ref="linksrc=journal_actions_btn"
title="American journal of medical genetics. Part A"
tabindex="0"
aria-controls="full-view-journal"
aria-expanded="false"
aria-label="Toggle dropdown menu for journal American journal of medical genetics. Part A"
data-pinger-ignore>
Am J Med Genet A
</button><div id="full-view-journal"
class="journal-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for journal American journal of medical genetics. Part A"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Am+J+Med+Genet+A%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Am+J+Med+Genet+A%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_journal_name_link&amp;journal_abbrev=Am J Med Genet A"
data-ga-category="search"
data-ga-action="journal_link"
data-ga-label="Am J Med Genet A">
Search in PubMed
</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link"
ref ="linksrc=search_in_nlm_catalog_link"
href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Am+J+Med+Genet+A%22%5BTitle+Abbreviation%5D"
data-ga-category="search_catalog"
data-ga-action="journal_link"
data-ga-label="Am J Med Genet A">
Search in NLM Catalog
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref ="linksrc=add_to_search_link"
role="button"
data-search-term='"Am J Med Genet A"[jour]'
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label='"Am J Med Genet A"[jour]'
href="#">
Add to Search
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2024 Sep;194(9):e63586.</span>
</div>
<span class="citation-doi">
doi: 10.1002/ajmg.a.63586.
</span>
<span class="secondary-date">
Epub 2024 May 6.
</span>
</div>
<h1 class="heading-title">
Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature
</h1>
<div class="inline-authors">
<div class="authors">
<div class="authors-list">
<span class="authors-list-item "><a class="full-name"
href="/?term=Esposito+A&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Arianna Esposito">Arianna Esposito</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Cardiac Surgery, Cardiology, Heart and Lung Transplantation, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#full-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Niceta+M&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Marcello Niceta">Marcello Niceta</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Molecular Genetics and Functional Genomics, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#full-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Novelli+A&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Antonio Novelli">Antonio Novelli</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#full-view-affiliation-3" ref="linksrc=author_aff">
3
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Magliozzi+M&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Monia Magliozzi">Monia Magliozzi</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#full-view-affiliation-3" ref="linksrc=author_aff">
3
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Parlapiano+G&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Giovanni Parlapiano">Giovanni Parlapiano</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Cardiogenetic Center, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#full-view-affiliation-4" ref="linksrc=author_aff">
4
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Baban+A&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Anwar Baban">Anwar Baban</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Cardiogenetic Center, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#full-view-affiliation-4" ref="linksrc=author_aff">
4
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Perrone+MA&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Marco Alfonso Perrone">Marco Alfonso Perrone</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Clinical Pathways and Epidemiology Unit, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#full-view-affiliation-5" ref="linksrc=author_aff">
5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Cardiology and CardioLab, Department of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, Rome, Italy." href="#full-view-affiliation-6" ref="linksrc=author_aff">
6
</a></sup></span>
</div>
</div>
</div>
<div class="short-article-details">
Affiliations
<button
class="more-details"
id="toggle-authors"
data-alt-text="Collapse"
aria-controls="expanded-authors"
aria-expanded="false"
data-pinger-ignore
data-fetch-url="/38709155/long-authors/"
data-id-prefix="">
<span class="title">
Expand
</span>
</button>
</div>
<div class="extended-article-details" id="expanded-authors" aria-hidden="true">
<div class="expanded-authors" id="full-view-expanded-authors">
<div class="affiliations">
<h3 class="title">
Affiliations
</h3>
<ul class="item-list">
<li data-affiliation-id="full-view-affiliation-1"
id="full-view-affiliation-1"
><sup class="key">1</sup> Department of Cardiac Surgery, Cardiology, Heart and Lung Transplantation, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy.</li>
<li data-affiliation-id="full-view-affiliation-2"
id="full-view-affiliation-2"
><sup class="key">2</sup> Molecular Genetics and Functional Genomics, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy.</li>
<li data-affiliation-id="full-view-affiliation-3"
id="full-view-affiliation-3"
><sup class="key">3</sup> Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy.</li>
<li data-affiliation-id="full-view-affiliation-4"
id="full-view-affiliation-4"
><sup class="key">4</sup> Cardiogenetic Center, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy.</li>
<li data-affiliation-id="full-view-affiliation-5"
id="full-view-affiliation-5"
><sup class="key">5</sup> Clinical Pathways and Epidemiology Unit, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy.</li>
<li data-affiliation-id="full-view-affiliation-6"
id="full-view-affiliation-6"
><sup class="key">6</sup> Division of Cardiology and CardioLab, Department of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, Rome, Italy.</li>
</ul>
</div>
</div>
</div>
<ul class="identifiers" id="full-view-identifiers">
<li>
<span class="identifier pubmed">
<span class="id-label">
PMID:
</span>
<strong class="current-id" title="PubMed ID">38709155</strong>
</span>
</li>
<li>
<span class="identifier doi">
<span class="id-label">
DOI:
</span>
<a class="id-link"
target="_blank"
rel="noopener"
ref="linksrc=article_id_link&amp;article_id=10.1002/ajmg.a.63586&amp;id_type=DOI"
href="https://doi.org/10.1002/ajmg.a.63586"
data-ga-category="full_text"
data-ga-action="DOI"
>
10.1002/ajmg.a.63586
</a>
</span>
</li>
</ul>
<div class="in-clipboard-label " hidden>
Item in Clipboard
</div>
</div>
<div class="short-view" id="short-view-heading">
<div class="publication-type" >Review</div>
<h1 class="heading-title">
Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature
</h1>
<div class="short-citation">
<span class="authors-list">
<span class="authors-list-item "><span class="full-name">Arianna Esposito</span><span class="citation-separator">&nbsp;et al.</span></span>
</span>
<span class="citation-journal">
Am J Med Genet A<span class="citation-separator">.</span>
</span>
<span class="date">
<span class="citation-year">2024 Sep</span><span class="citation-separator">.</span>
</span>
</div>
<div class="more-article-details-section with-display-settings">
<button class="more-article-details"
id="toggle-article-details"
data-alt-text="Hide details"
ref="linksrc=toggle_article_details"
aria-controls="full-article-details"
aria-expanded="false"
data-fetch-url="/38709155/long-authors/"
data-id-prefix="">
<span class="title">Show details</span>
</button>
<div class="display-options" data-format-key="format"
data-default-format-value="abstract"
data-current-format-value="abstract" role="region">
<button
class="trigger usa-button"
title="Change format"
data-ga-category="display_options"
data-ga-action="display_options_dialog">
<span class="button-label">Display options</span>
</button>
<div class="dropdown" hidden>
<div class="title">
Display options
</div>
<div class="content">
<div class="format-container">
<span class="option-label">
Format
</span>
<select name="format" data-initial-value="abstract" aria-label="Display format" id="mobile-display-format">
<option value="abstract">Abstract</option>
<option value="pubmed">PubMed</option>
<option value="pmid">PMID</option>
</select>
</div>
</div>
</div>
</div>
</div>
<div class="extended-article-details" id="full-article-details" aria-hidden="true">
<div class="article-citation">
<div class="article-source">
<div class="journal-actions dropdown-block"><button id="short-view-journal-trigger"
class="journal-actions-trigger trigger"
ref="linksrc=journal_actions_btn"
title="American journal of medical genetics. Part A"
tabindex="0"
aria-controls="short-view-journal"
aria-expanded="false"
aria-label="Toggle dropdown menu for journal American journal of medical genetics. Part A"
data-pinger-ignore>
Am J Med Genet A
</button><div id="short-view-journal"
class="journal-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for journal American journal of medical genetics. Part A"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Am+J+Med+Genet+A%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Am+J+Med+Genet+A%22%5Bjour%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_journal_name_link&amp;journal_abbrev=Am J Med Genet A"
data-ga-category="search"
data-ga-action="journal_link"
data-ga-label="Am J Med Genet A">
Search in PubMed
</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link"
ref ="linksrc=search_in_nlm_catalog_link"
href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Am+J+Med+Genet+A%22%5BTitle+Abbreviation%5D"
data-ga-category="search_catalog"
data-ga-action="journal_link"
data-ga-label="Am J Med Genet A">
Search in NLM Catalog
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref ="linksrc=add_to_search_link"
role="button"
data-search-term='"Am J Med Genet A"[jour]'
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label='"Am J Med Genet A"[jour]'
href="#">
Add to Search
</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2024 Sep;194(9):e63586.</span>
</div>
<span class="citation-doi">
doi: 10.1002/ajmg.a.63586.
</span>
<span class="secondary-date">
Epub 2024 May 6.
</span>
</div>
<div class="expanded-authors" id="short-view-expanded-authors">
<div class="authors">
<h3 class="title">
Authors
</h3>
<div class="authors-list">
<span class="authors-list-item "><a class="full-name"
href="/?term=Esposito+A&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Arianna Esposito">Arianna Esposito</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Cardiac Surgery, Cardiology, Heart and Lung Transplantation, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Niceta+M&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Marcello Niceta">Marcello Niceta</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Molecular Genetics and Functional Genomics, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Novelli+A&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Antonio Novelli">Antonio Novelli</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#short-view-affiliation-3" ref="linksrc=author_aff">
3
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Magliozzi+M&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Monia Magliozzi">Monia Magliozzi</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#short-view-affiliation-3" ref="linksrc=author_aff">
3
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Parlapiano+G&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Giovanni Parlapiano">Giovanni Parlapiano</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Cardiogenetic Center, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#short-view-affiliation-4" ref="linksrc=author_aff">
4
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Baban+A&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Anwar Baban">Anwar Baban</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Cardiogenetic Center, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#short-view-affiliation-4" ref="linksrc=author_aff">
4
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Perrone+MA&amp;cauthor_id=38709155"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Marco Alfonso Perrone">Marco Alfonso Perrone</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Clinical Pathways and Epidemiology Unit, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy." href="#short-view-affiliation-5" ref="linksrc=author_aff">
5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Cardiology and CardioLab, Department of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, Rome, Italy." href="#short-view-affiliation-6" ref="linksrc=author_aff">
6
</a></sup></span>
</div>
</div>
<div class="affiliations">
<h3 class="title">
Affiliations
</h3>
<ul class="item-list">
<li data-affiliation-id="short-view-affiliation-1"
id="short-view-affiliation-1"
><sup class="key">1</sup> Department of Cardiac Surgery, Cardiology, Heart and Lung Transplantation, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy.</li>
<li data-affiliation-id="short-view-affiliation-2"
id="short-view-affiliation-2"
><sup class="key">2</sup> Molecular Genetics and Functional Genomics, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy.</li>
<li data-affiliation-id="short-view-affiliation-3"
id="short-view-affiliation-3"
><sup class="key">3</sup> Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy.</li>
<li data-affiliation-id="short-view-affiliation-4"
id="short-view-affiliation-4"
><sup class="key">4</sup> Cardiogenetic Center, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy.</li>
<li data-affiliation-id="short-view-affiliation-5"
id="short-view-affiliation-5"
><sup class="key">5</sup> Clinical Pathways and Epidemiology Unit, Bambino Gesù Children&#x27;s Hospital, IRCCS, Rome, Italy.</li>
<li data-affiliation-id="short-view-affiliation-6"
id="short-view-affiliation-6"
><sup class="key">6</sup> Division of Cardiology and CardioLab, Department of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, Rome, Italy.</li>
</ul>
</div>
</div>
<ul class="identifiers" id="short-view-identifiers">
<li>
<span class="identifier pubmed">
<span class="id-label">
PMID:
</span>
<strong class="current-id" title="PubMed ID">38709155</strong>
</span>
</li>
<li>
<span class="identifier doi">
<span class="id-label">
DOI:
</span>
<a class="id-link"
target="_blank"
rel="noopener"
ref="linksrc=article_id_link&amp;article_id=10.1002/ajmg.a.63586&amp;id_type=DOI"
href="https://doi.org/10.1002/ajmg.a.63586"
data-ga-category="full_text"
data-ga-action="DOI"
>
10.1002/ajmg.a.63586
</a>
</span>
</li>
</ul>
<div class="in-clipboard-label " hidden>
Item in Clipboard
</div>
</div>
</div>
</header>
<div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger"
title="Open dialog with full text links"
ref="linksrc=full_text_links">
Full text links
</button><button class="citation-button citation-dialog-trigger"
aria-label="Open dialog with citation text in different styles"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="open"
data-all-citations-url="/38709155/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/38709155/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger"
title="Open dialog with more actions to take"
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
data-default-format-value="abstract"
data-current-format-value="abstract" role="region"><button
class="trigger usa-button"
title="Change format"
data-ga-category="display_options"
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
Display options
</div><div class="content"><div class="format-container"><span class="option-label">
Format
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
<div class="abstract" id="abstract">
<h2 class="title">
Abstract
</h2>
<div class="abstract-content selected"
id="eng-abstract">
<p>
Aymé-Gripp syndrome (AYGRPS) is a multisystemic disorder caused by a subset of pathogenic variants in the MAF gene. Major clinical features include bilateral early cataracts, sensorineural hearing loss (SNHL), and a characteristic facial appearance along with variable neurodevelopmental delay. Pericarditis resulting in pericardial effusion of varying degree has been observed in a subset of affected individuals and could represent a severe feature in neonatal or infantile age. Here, we describe a syndromic infant with massive pericardial effusion and craniofacial features that oriented toward the suspicion of AYGRPS, which was subsequently confirmed by the molecular analysis of MAF. Pericardial effusion was first observed prenatally and documented to be recurrent, progressive, and severe in the first months of life, thus requiring pericardiocentesis and surgical procedures. In this report, we provide further delineation of the minor clinical characteristics, particularly focusing on cardiac features of AYGRPS. A dedicated cardiac surveillance of these findings may help reduce the morbidity and mortality of this rare condition.
</p>
</div>
<p>
<strong class="sub-title">
Keywords:
</strong>
AyméGripp syndrome; MAF; cardiac defects; pericardial effusion.
</p>
</div>
<p class="copyright" id="copyright">
© 2024 Wiley Periodicals LLC.
</p>
<p class="disclaimer" id="disclaimer">
<a href="/disclaimer/" target="_blank" data-ga-category="literature_resources"
data-ga-action="disclaimer_link" data-ga-label="under_abstract">PubMed Disclaimer</a>
</p>
<div class="similar-articles" id="similar">
<h2 class="title">
Similar articles
</h2>
<ul class="articles-list" id="similar-articles-list">
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/34643041/"
ref="article_id=34643041&amp;linksrc=similar_articles_link&amp;ordinalpos=1"
data-ga-category="similar_article"
data-ga-action="34643041"
data-ga-label="">
Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">König AL, Sabir H, Strizek B, Gembruch U, Herberg U, Bertrand M, Grasshoff U, Wiegand G, Wiechers C, Bernis E, Reutter H, Müller A.</span>
<span class="docsum-authors short-authors">König AL, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Am J Med Genet A. 2022 Feb;188(2):624-627. doi: 10.1002/ajmg.a.62540. Epub 2021 Oct 12.</span>
<span class="docsum-journal-citation short-journal-citation">Am J Med Genet A. 2022.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">34643041</span></span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/30160832/"
ref="article_id=30160832&amp;linksrc=similar_articles_link&amp;ordinalpos=2"
data-ga-category="similar_article"
data-ga-action="30160832"
data-ga-label="">
Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW.</span>
<span class="docsum-authors short-authors">Amudhavalli SM, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Am J Med Genet A. 2018 Jul;176(7):1648-1656. doi: 10.1002/ajmg.a.38832.</span>
<span class="docsum-journal-citation short-journal-citation">Am J Med Genet A. 2018.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">30160832</span></span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/31600839/"
ref="article_id=31600839&amp;linksrc=similar_articles_link&amp;ordinalpos=3"
data-ga-category="similar_article"
data-ga-action="31600839"
data-ga-label="">
Skeletal abnormalities are common features in Aymé-Gripp syndrome.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, López-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M.</span>
<span class="docsum-authors short-authors">Niceta M, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Clin Genet. 2020 Feb;97(2):362-369. doi: 10.1111/cge.13651. Epub 2019 Nov 3.</span>
<span class="docsum-journal-citation short-journal-citation">Clin Genet. 2020.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">31600839</span></span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/29314435/"
ref="article_id=29314435&amp;linksrc=similar_articles_link&amp;ordinalpos=4"
data-ga-category="similar_article"
data-ga-action="29314435"
data-ga-label="">
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Anand D, Agrawal SA, Slavotinek A, Lachke SA.</span>
<span class="docsum-authors short-authors">Anand D, et al.</span>
<span class="docsum-journal-citation full-journal-citation">Hum Mutat. 2018 Apr;39(4):471-494. doi: 10.1002/humu.23395. Epub 2018 Jan 16.</span>
<span class="docsum-journal-citation short-journal-citation">Hum Mutat. 2018.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">29314435</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
<span class="publication-type spaced-citation-item citation-part">Review.</span>
</div>
</div>
</li>
<li class="full-docsum">
<div class="docsum-content" style="display:inline;">
<a class="docsum-title"
href="/33233991/"
ref="article_id=33233991&amp;linksrc=similar_articles_link&amp;ordinalpos=5"
data-ga-category="similar_article"
data-ga-action="33233991"
data-ga-label="">
Chronic massive pericardial effusion: a case report and literature review.
</a>
<div class="docsum-citation full-citation">
<span class="docsum-authors full-authors">Huang YS, Zhang JX, Sun Y.</span>
<span class="docsum-authors short-authors">Huang YS, et al.</span>
<span class="docsum-journal-citation full-journal-citation">J Int Med Res. 2020 Nov;48(11):300060520973091. doi: 10.1177/0300060520973091.</span>
<span class="docsum-journal-citation short-journal-citation">J Int Med Res. 2020.</span>
<span class="citation-part">PMID: <span class="docsum-pmid">33233991</span></span>
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
<span class="publication-type spaced-citation-item citation-part">Review.</span>
</div>
</div>
</li>
</ul>
<div class="actions-bar">
<a
class="show-all-linked-articles"
data-href="/?linkname=pubmed_pubmed&from_uid=38709155"
data-ga-category="similar_article"
data-ga-action="show_all"
>
See all similar articles
</a>
</div>
</div>
<div class="references" id="references">
<h2 class="title">
References
</h2>
<div id='top-references-list' class="references-lists-container">
<div class="refs-list">
<h4 class="refs-list-title">REFERENCES</h4>
<ol id="top-references-list-1" class="references-list">
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Alkhunaizi, E., Koenekoop, R. K., SaintMartin, C., &amp; Russell, L. (2019). Maternally inherited MAF variant associated with variable expression of AyméGripp syndrome. American Journal of Medical Genetics. Part A, 179(11), 22332236.
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Amudhavalli, S. M., Gadea, R., &amp; Gripp, K. (2020). AyméGripp syndrome. In M. P. Adam, D. B. Everman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, &amp; A. Amemiya (Eds.), GeneReviews® [Internet] (pp. 19932023). University of Washington, Seattle.
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Amudhavalli, S. M., Hanson, R., Angle, B., Bontempo, K., &amp; Gripp, K. W. (2018). Further delineation of AyméGripp syndrome and use of automated facial analysis tool. American Journal of Medical Genetics. Part A, 176(7), 16481656.
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Anthony C. Chang, Frank L. Hanley, Gil Wernovsky, and David L. Wessel (1998), Pediatric cardiac intensive care. Baltimore: Lippincott Williams &amp; Wilkins.
</li>
</ol>
</li>
<li>
<ol class="references-and-notes-list">
<li
class="skip-numbering"
value="1">
Aymé, S., &amp; Philip, N. (1996). FineLubinsky syndrome: A fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. Clinical Dysmorphology, 5(1), 5560.
</li>
</ol>
</li>
</ol>
<div class="actions-bar">
<button
class="show-all"
ref="linksrc=show_all_references_link"
aria-controls="top-references-list-1"
data-next-page-url="/38709155/references/"
data-ga-category="reference"
data-ga-action="show_more"
>
Show all 18 references
</button>
</div>
</div>
</div>
</div>
<div id="publication-types" class="publication-types keywords-section">
<h2 class="title">
Publication types
</h2>
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Case Reports"
tabindex="0"
aria-controls="keyword-actions-publication-types-0"
aria-expanded="false"
data-pinger-ignore>
Case Reports
</button><div id="keyword-actions-publication-types-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Case Reports"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Case+Reports%22%5Bpt%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Case+Reports%22%5Bpt%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Case Reports&quot;[pt]"
data-ga-category="search"
data-ga-action="pub_type"
data-ga-label="Case Reports">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Case+Reports"
data-ga-category="search_mesh"
data-ga-action="pub_type_link"
data-ga-label="Case Reports">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Case Reports&quot;[pt]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Case Reports&quot;[pt]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Review"
tabindex="0"
aria-controls="keyword-actions-publication-types-1"
aria-expanded="false"
data-pinger-ignore>
Review
</button><div id="keyword-actions-publication-types-1"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Review"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Review%22%5Bpt%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Review%22%5Bpt%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Review&quot;[pt]"
data-ga-category="search"
data-ga-action="pub_type"
data-ga-label="Review">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Review"
data-ga-category="search_mesh"
data-ga-action="pub_type_link"
data-ga-label="Review">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Review&quot;[pt]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Review&quot;[pt]"
href="#">
Add to Search
</a></li></ul></div></div></div></li></ul>
</div>
<div id="mesh-terms" class="mesh-terms keywords-section">
<h2 class="title">
MeSH terms
</h2>
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Cataract / diagnosis"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-0"
aria-expanded="false"
data-pinger-ignore>
Cataract / diagnosis
</button><div id="keyword-actions-mesh-terms-0"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Cataract / diagnosis"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Cataract%2Fdiagnosis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Cataract%2Fdiagnosis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Cataract/diagnosis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Cataract / diagnosis">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Cataract"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Cataract / diagnosis">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Cataract/diagnosis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Cataract/diagnosis&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Cataract / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-1"
aria-expanded="false"
data-pinger-ignore>
Cataract / genetics
</button><div id="keyword-actions-mesh-terms-1"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Cataract / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Cataract%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Cataract%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Cataract/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Cataract / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Cataract"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Cataract / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Cataract/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Cataract/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Cataract / pathology"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-2"
aria-expanded="false"
data-pinger-ignore>
Cataract / pathology
</button><div id="keyword-actions-mesh-terms-2"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Cataract / pathology"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Cataract%2Fpathology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Cataract%2Fpathology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Cataract/pathology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Cataract / pathology">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Cataract"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Cataract / pathology">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Cataract/pathology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Cataract/pathology&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Developmental Disabilities / diagnosis"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-3"
aria-expanded="false"
data-pinger-ignore>
Developmental Disabilities / diagnosis
</button><div id="keyword-actions-mesh-terms-3"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Developmental Disabilities / diagnosis"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Developmental+Disabilities%2Fdiagnosis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Developmental+Disabilities%2Fdiagnosis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Developmental Disabilities/diagnosis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Developmental Disabilities / diagnosis">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Developmental+Disabilities"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Developmental Disabilities / diagnosis">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Developmental Disabilities/diagnosis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Developmental Disabilities/diagnosis&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Developmental Disabilities / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-4"
aria-expanded="false"
data-pinger-ignore>
Developmental Disabilities / genetics
</button><div id="keyword-actions-mesh-terms-4"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Developmental Disabilities / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Developmental+Disabilities%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Developmental+Disabilities%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Developmental Disabilities/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Developmental Disabilities / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Developmental+Disabilities"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Developmental Disabilities / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Developmental Disabilities/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Developmental Disabilities/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Developmental Disabilities / pathology"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-5"
aria-expanded="false"
data-pinger-ignore>
Developmental Disabilities / pathology
</button><div id="keyword-actions-mesh-terms-5"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Developmental Disabilities / pathology"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Developmental+Disabilities%2Fpathology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Developmental+Disabilities%2Fpathology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Developmental Disabilities/pathology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Developmental Disabilities / pathology">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Developmental+Disabilities"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Developmental Disabilities / pathology">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Developmental Disabilities/pathology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Developmental Disabilities/pathology&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Female"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-6"
aria-expanded="false"
data-pinger-ignore>
Female
</button><div id="keyword-actions-mesh-terms-6"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Female"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Female%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Female%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Female&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Female">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Female"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Female">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Female&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Female&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Hearing Loss, Sensorineural / diagnosis"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-7"
aria-expanded="false"
data-pinger-ignore>
Hearing Loss, Sensorineural / diagnosis
</button><div id="keyword-actions-mesh-terms-7"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Hearing Loss, Sensorineural / diagnosis"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Hearing+Loss%2C+Sensorineural%2Fdiagnosis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Hearing+Loss%2C+Sensorineural%2Fdiagnosis%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Hearing Loss, Sensorineural/diagnosis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Hearing Loss, Sensorineural / diagnosis">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Hearing+Loss%2C+Sensorineural"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Hearing Loss, Sensorineural / diagnosis">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Hearing Loss, Sensorineural/diagnosis&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Hearing Loss, Sensorineural/diagnosis&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Hearing Loss, Sensorineural / genetics"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-8"
aria-expanded="false"
data-pinger-ignore>
Hearing Loss, Sensorineural / genetics
</button><div id="keyword-actions-mesh-terms-8"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Hearing Loss, Sensorineural / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Hearing+Loss%2C+Sensorineural%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Hearing+Loss%2C+Sensorineural%2Fgenetics%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Hearing Loss, Sensorineural/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Hearing Loss, Sensorineural / genetics">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Hearing+Loss%2C+Sensorineural"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Hearing Loss, Sensorineural / genetics">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Hearing Loss, Sensorineural/genetics&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Hearing Loss, Sensorineural/genetics&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Hearing Loss, Sensorineural / pathology"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-9"
aria-expanded="false"
data-pinger-ignore>
Hearing Loss, Sensorineural / pathology
</button><div id="keyword-actions-mesh-terms-9"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Hearing Loss, Sensorineural / pathology"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Hearing+Loss%2C+Sensorineural%2Fpathology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Hearing+Loss%2C+Sensorineural%2Fpathology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Hearing Loss, Sensorineural/pathology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Hearing Loss, Sensorineural / pathology">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Hearing+Loss%2C+Sensorineural"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Hearing Loss, Sensorineural / pathology">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Hearing Loss, Sensorineural/pathology&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Hearing Loss, Sensorineural/pathology&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Humans"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-10"
aria-expanded="false"
data-pinger-ignore>
Humans
</button><div id="keyword-actions-mesh-terms-10"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Humans%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Humans%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Humans&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Humans">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Humans">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Humans&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Humans&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Infant, Newborn"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-11"
aria-expanded="false"
data-pinger-ignore>
Infant, Newborn
</button><div id="keyword-actions-mesh-terms-11"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Infant, Newborn"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Infant%2C+Newborn%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Infant%2C+Newborn%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Infant, Newborn&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Infant, Newborn">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Infant%2C+Newborn"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Infant, Newborn">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Infant, Newborn&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Infant, Newborn&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Pericardial Effusion* / diagnosis"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-12"
aria-expanded="false"
data-pinger-ignore>
Pericardial Effusion* / diagnosis
</button><div id="keyword-actions-mesh-terms-major-12"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Pericardial Effusion* / diagnosis"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Pericardial+Effusion%2Fdiagnosis%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Pericardial+Effusion%2Fdiagnosis%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Pericardial Effusion/diagnosis&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Pericardial Effusion* / diagnosis">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Pericardial+Effusion"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Pericardial Effusion* / diagnosis">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Pericardial Effusion/diagnosis&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Pericardial Effusion/diagnosis&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
aria-label="Toggle dropdown menu for keyword Pericardial Effusion* / pathology"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-major-13"
aria-expanded="false"
data-pinger-ignore>
Pericardial Effusion* / pathology
</button><div id="keyword-actions-mesh-terms-major-13"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Pericardial Effusion* / pathology"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Pericardial+Effusion%2Fpathology%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Pericardial+Effusion%2Fpathology%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Pericardial Effusion/pathology&quot;[MAJR]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Pericardial Effusion* / pathology">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Pericardial+Effusion"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Pericardial Effusion* / pathology">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Pericardial Effusion/pathology&quot;[MAJR]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Pericardial Effusion/pathology&quot;[MAJR]"
href="#">
Add to Search
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
aria-label="Toggle dropdown menu for keyword Phenotype"
tabindex="0"
aria-controls="keyword-actions-mesh-terms-14"
aria-expanded="false"
data-pinger-ignore>
Phenotype
</button><div id="keyword-actions-mesh-terms-14"
class="keyword-actions-dropdown dropdown dropdown-container"
hidden
aria-label="Dropdown menu for keyword Phenotype"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
href="/?term=%22Phenotype%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
data-href="/?term=%22Phenotype%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Phenotype&quot;[MeSH]"
data-ga-category="search"
data-ga-action="mesh_term"
data-ga-label="Phenotype">
Search in PubMed
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
ref="linksrc=search_in_mesh_link"
href="https://www.ncbi.nlm.nih.gov/mesh?term=Phenotype"
data-ga-category="search_mesh"
data-ga-action="mesh_term_link"
data-ga-label="Phenotype">
Search in MeSH
</a></li><li><a class="add-to-search-link dropdown-block-link"
ref="linksrc=add_to_search_link"
role="button"
data-search-term="&quot;Phenotype&quot;[MeSH]"
data-ga-category="search"
data-ga-action="add_to_search"
data-ga-label="&quot;Phenotype&quot;[MeSH]"
href="#">
Add to Search
</a></li></ul></div></div></div></li></ul>
</div>
<div id="related-links" class="related-links">
<h2 class="title">
Related information
</h2>
<ul class="related-links-list"><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&amp;from_uid=38709155"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=38709155&ordinalpos=1&linkpos=1">
MedGen
</a></li></ul>
</div>
<div id="linkout" class="linkout">
<h2 class="title">
LinkOut - more resources
</h2>
<ul class="linkout-list"><li><h3 class="linkout-category">Full Text Sources</h3><ul class="linkout-category-links"><li><a
href="http://ovidsp.ovid.com/ovidweb.cgi?T=JS&amp;PAGE=linkout&amp;SEARCH=38709155.ui"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3682&uid=38709155&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=101235741"
data-ga-category="link_out"
data-ga-action="Full Text Sources"
data-ga-label="Ovid Technologies, Inc."
>
Ovid Technologies, Inc.
</a></li><li><a
href="https://doi.org/10.1002/ajmg.a.63586"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3058&uid=38709155&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=101235741"
data-ga-category="link_out"
data-ga-action="Full Text Sources"
data-ga-label="Wiley"
>
Wiley
</a></li></ul></li><li><h3 class="linkout-category">Medical</h3><ul class="linkout-category-links"><li><a
href="https://medlineplus.gov/pericardialdisorders.html"
target="_blank"
rel="noopener"
ref="linksrc=linkout_link&PrId=3162&uid=38709155&db=pubmed&itool=Abstract&log$=linkoutlink&nlmid=101235741"
data-ga-category="link_out"
data-ga-action="Medical"
data-ga-label="MedlinePlus Health Information"
>
MedlinePlus Health Information
</a></li></ul></li></ul>
</div>
</main>
<div class="overlay" role="dialog" aria-label="Full Text Links Dialog">
<div id="full-text-links-dialog" class="dialog full-text-links-dialog">
<strong class="title">Full text links</strong>
<button class="close-overlay" tabindex="2">[x]</button>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://doi.org/10.1002/ajmg.a.63586"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3058&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=38709155&amp;db=pubmed&amp;nlmid=101235741"
title="See full text options at Wiley"
tabindex="1"
data-ga-category="full_text"
data-ga-action="Wiley"
data-ga-label="38709155"
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--media.wiley.com-assets-7388-69-wiley-full-text.png" alt="Wiley full text link"><span class="text">
Wiley
</span></a>
</div>
</div>
</div>
<div class="overlay" role="dialog" aria-label="Citation Dialog">
<div class="dialog citation-dialog">
<button class="close-overlay" tabindex="1">[x]</button>
<div class="title">Cite</div>
<div class="citation-text-block">
<div class="citation-text"></div>
<div class="citation-actions">
<button
class="copy-button dialog-focus"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="copy"
tabindex="2">
Copy
</button>
<form method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="wlGDeGbuAwHhdkPM15IZrMDgziU8BlfUN8qIRwEQa7uL7LVCEol1VU9U7mCkuWNe">
<button type="submit"
class="export-button"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="download"
title="Download a file for external citation management software"
tabindex="3">
<span class="download-title">Download .nbib</span>
<span class="download-title-mobile">.nbib</span>
</button>
</form>
<div class="citation-style-selector-wrapper">
<label class="selector-label">Format:</label>
<select aria-label="Format" class="citation-style-selector" tabindex="4">
<option data-style-url-name="ama"
value="AMA"
>
AMA
</option>
<option data-style-url-name="apa"
value="APA"
>
APA
</option>
<option data-style-url-name="mla"
value="MLA"
>
MLA
</option>
<option data-style-url-name="nlm"
value="NLM"
selected="selected">
NLM
</option>
</select>
</div>
</div>
</div>
</div>
</div>
<div class="overlay" role="dialog" aria-label="More Actions Dialog">
<div id="more-actions-dialog" class="dialog more-actions-dialog">
<strong class="title">Send To</strong>
<ul class="more-actions-links">
<li><a id="clipboard-trigger" role="button" class="submit-button clipboard-trigger clipboard-trigger-target dialog-focus link-item " href="#">Clipboard</a></li>
<li><a class="email-trigger link-item" role="button" href="#">Email</a></li>
<li><a class="save-trigger link-item" role="button" href="#">Save</a></li>
<li><a class="link-item" role="button" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F38709155%2F%23open-bibliography-panel">My Bibliography</a></li>
<li><a class="link-item" role="button" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F38709155%2F%23open-collections-panel">Collections</a></li>
<li><a class="citation-manager-trigger link-item" role="button" href="#">Citation Manager</a></li>
</ul>
<button class="close-overlay">[x]</button>
</div>
</div>
</div>
<div id="ncbi-footer">
<div class="literature-footer" role="complementary" title="Links to NCBI Literature Resources">
<div class="usa-grid">
<p class="literature-footer-text">NCBI Literature Resources</p>
<p class="literature-footer-text">
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh/">MeSH</a>
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="pmc_link" href="https://www.ncbi.nlm.nih.gov/pmc/">PMC</a>
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="bookshelf_link" href="https://www.ncbi.nlm.nih.gov/books">Bookshelf</a>
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="disclaimer_link" href="/disclaimer/">Disclaimer</a>
</p>
<p class="literature-footer-text attribution-statement">The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Unauthorized use of these marks is strictly prohibited.</p>
</div>
</div>
<!-- ========== BEGIN FOOTER ========== -->
<footer>
<section class="icon-section">
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
<div class="grid-container container">
<div class="icon-section_container">
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
<svg width="40" height="40" viewBox="0 0 40 37" fill="none" xmlns="http://www.w3.org/2000/svg">
<title>Twitter</title>
<g id="twitterx1008">
<path id="path1008"
d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z"
fill="#5B616B"/>
</g>
</svg>
</a>
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
<title>Facebook</title>
<path class="cls-11"
d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
</path>
</svg></a>
<a class="footer-icon" id="footer_linkedin"
href="https://www.linkedin.com/company/ncbinlm"
aria-label="LinkedIn"><svg data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
<title>LinkedIn</title>
<path class="cls-11"
d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
</path>
</svg></a>
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
<defs>
<style>
.cls-11,
.cls-12 {
fill: #737373;
}
.cls-11 {
fill-rule: evenodd;
}
</style>
</defs>
<title>GitHub</title>
<path class="cls-11"
d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
</path>
<path class="cls-12"
d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
</path>
<path class="cls-12"
d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
</path>
<path class="cls-12"
d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
<path class="cls-12"
d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
</path>
<path class="cls-12"
d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
</path>
<path class="cls-12"
d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
</path>
<path class="cls-12"
d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
</svg></a>
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
<svg id="Layer_1" data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 40"><defs><style>.cls-1{fill:#737373;}</style></defs><path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"/></svg>
</a>
</div>
</div>
</section>
<section class="container-fluid bg-primary">
<div class="container pt-5">
<div class="row mt-3">
<div class="col-lg-3 col-12">
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
<ul class="list-inline social_media">
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter"
target="_blank" rel="noopener noreferrer">
<svg width="35" height="35" viewBox="0 0 38 35" fill="none" xmlns="http://www.w3.org/2000/svg">
<title>Twitter</title>
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
<path id="Vector" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.2" stroke-miterlimit="10"></path>
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
</g>
<defs>
<clipPath id="clip0_65276_3946">
<rect width="38" height="38" fill="white"></rect>
</clipPath>
</defs>
</svg></a>
</li>
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine"
aria-label="Facebook" rel="noopener noreferrer" target="_blank">
<svg version="1.1" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" x="0px"
y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve">
<style type="text/css">
.st10 {
fill: #FFFFFF;
}
.st110 {
fill: none;
stroke: #FFFFFF;
stroke-width: 8;
stroke-miterlimit: 10;
}
</style>
<title>SM-Facebook</title>
<g>
<g>
<path class="st10" d="M159,99.1h-24V88.4c0-5,3.3-6.2,5.7-6.2h16.8V60l-24.4-0.1c-22.1,0-26.2,16.5-26.2,27.1v12.1H90v22.5h16.9
v67.5H135v-67.5h21.7L159,99.1z"></path>
</g>
</g>
<circle class="st110" cx="123.6" cy="123.2" r="108.2"></circle>
</svg>
</a></li>
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube"
target="_blank" rel="noopener noreferrer"><svg version="1.1" xmlns="http://www.w3.org/2000/svg"
xmlns:xlink="http://www.w3.org/1999/xlink" x="0px" y="0px" viewBox="0 0 249 249"
style="enable-background:new 0 0 249 249;" xml:space="preserve">
<title>SM-Youtube</title>
<style type="text/css">
.st4 {
fill: none;
stroke: #FFFFFF;
stroke-width: 8;
stroke-miterlimit: 10;
}
.st5 {
fill: #FFFFFF;
}
</style>
<circle class="st4" cx="124.2" cy="123.4" r="108.2"></circle>
<g transform="translate(0,-952.36218)">
<path class="st5"
d="M88.4,1037.4c-10.4,0-18.7,8.3-18.7,18.7v40.1c0,10.4,8.3,18.7,18.7,18.7h72.1c10.4,0,18.7-8.3,18.7-18.7
v-40.1c0-10.4-8.3-18.7-18.7-18.7H88.4z M115.2,1058.8l29.4,17.4l-29.4,17.4V1058.8z"></path>
</g>
</svg></a></li>
</ul>
</div>
<div class="col-lg-3 col-12">
<p class="address_footer text-white">National Library of Medicine<br>
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323"
class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br>
Bethesda, MD 20894</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br>
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office"
class="text-white">FOIA</a><br>
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br>
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br>
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
</div>
</div>
<div class="row">
<div class="col-lg-12 centered-lg">
<nav class="bottom-links">
<ul class="mt-3">
<li>
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
</li>
<li>
<a class="text-white"
href="https://www.nih.gov/">NIH</a>
</li>
<li>
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
</li>
<li>
<a
class="text-white" href="https://www.usa.gov/">USA.gov</a>
</li>
</ul>
</nav>
</div>
</div>
</div>
</section>
</footer>
<!-- ========== END FOOTER ========== -->
<!-- javascript to inject NWDS meta tags. Note: value of nwds_version is updated by "npm version" command -->
<script type="text/javascript">
var nwds_version = "1.2.3";
var meta_nwds_ver = document.createElement('meta');
meta_nwds_ver.name = 'ncbi_nwds_ver';
meta_nwds_ver.content = nwds_version;
document.getElementsByTagName('head')[0].appendChild(meta_nwds_ver);
var meta_nwds = document.createElement('meta');
meta_nwds.name = 'ncbi_nwds';
meta_nwds.content = 'yes';
document.getElementsByTagName('head')[0].appendChild(meta_nwds);
var alertsUrl = "/core/alerts/alerts.js";
if (typeof ncbiBaseUrl !== 'undefined') {
alertsUrl = ncbiBaseUrl + alertsUrl;
}
</script>
</div>
<!-- jQuery with plugins -->
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.293fbf76aa18.js"></script>
<!-- Project base scripts -->
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.550e9c8906a2.js"></script>
<script>
ncbi.awesome.basePage.init({
userInfo: {
isLoggedIn: false,
username: "",
loginUrl: "https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F38709155%2F",
logoutUrl: "https://www.ncbi.nlm.nih.gov/account/signout/?back_url=https%3A//pubmed.ncbi.nlm.nih.gov/38709155/"
},
baseUrl: 'https://www.ncbi.nlm.nih.gov',
noSessionCookieName: "pm-ns",
searchIdCookieName: "pm-sid",
adjNavSearchIdCookieName: "pm-adjnav-sid",
searchFormSubmittedCookieName: "pm-sfs",
isOnSearchPageCookieName: "pm-iosp",
backToSearchCookieName: "pm-btsl",
clinicalSeeAllCookieName: "pm-csa",
jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
userShareRequestFailed: "",
noSharedSettings: "myncbi_no_shared_settings",
noSharedAccount: "myncbi_no_shared_account"
});
</script>
<script type="module">
import dismissableNCBIAlert from "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/dismissable-ncbi-alert.js";
jQuery.getScript("https://www.ncbi.nlm.nih.gov/core/alerts/alerts.js", function () {
galert(['body > *:last-child']);
dismissableNCBIAlert();
}).fail(function() {
});
</script>
<script defer type="text/javascript" src="https://cdn.ncbi.nlm.nih.gov/core/pinger/pinger.js"> </script>
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.e3950ac8c6da.js"></script>
<script>
ncbi.awesome.articlePage.init({
baseSuggestionsUrl: "/suggestions/",
mathJaxUrl: "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/mathjax/unpacked/MathJax.js?config=MML_CHTML",
clipboardAPIRoot: "/ajax/clipboard/",
clipboardNextPageUrl: "/clipboard-next-page/",
searchIdCookieName: "pm-sid",
searchFormSubmittedCookieName: "pm-sfs",
backToSearchCookieName: "pm-btsl",
jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
longTermPrefix: "longquery",
adjNavURLPath: "/38709155/adj-nav/",
adjNavSearchIdCookieName: "pm-adjnav-sid",
articlePageUrl: "/38709155/",
markJSUrl: "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/mark.js/dist/jquery.mark.js",
termHighlightColor: "",
highlightedTokens: "",
citeFormatPreferenceCookieName: "pm-cf"
});
</script>
</body>
</html>