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<meta name="keywords" content="C5235036, acromesomelic dwarfism, acromesomelic dysplasia, acromesomelic dysplasia group, acromesomelic dysplasia syndrome, disease or syndrome, st helena dysplasia, st. helena dysplasia, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1710812
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ConceptID=C5235036
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Acromesomelic dysplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1710812</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5235036</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Acromesomelic Dwarfism; St Helena dysplasia; St. Helena Dysplasia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Acromesomelic dysplasia syndrome (279082008); Acromesomelic dysplasia group (279082008); Acromesomelic dwarfism (279082008); Acromesomelic dysplasia (279082008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019696" target="_blank">MONDO:0019696</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS602875" target="_blank">PS602875</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93437">ORPHA93437</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Acromesomelic dysplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Acromesomelic dysplasia</span><ul><li><span class="TLline"><a href="/medgen/355199" ref="tree=MeSH" title="MedGen record for Acromesomelic dysplasia 1, Maroteaux type">Acromesomelic dysplasia 1, Maroteaux type</a></span></li><li><span class="TLline"><a href="/medgen/346432" ref="tree=MeSH" title="MedGen record for Acromesomelic dysplasia 2B">Acromesomelic dysplasia 2B</a></span></li><li><span class="TLline"><a href="/medgen/419681" ref="tree=MeSH" title="MedGen record for Acromesomelic dysplasia 2C, Hunter-Thompson type">Acromesomelic dysplasia 2C, Hunter-Thompson type</a></span></li><li><span class="TLline"><a href="/medgen/75557" ref="tree=MeSH" title="MedGen record for Grebe syndrome">Grebe syndrome</a></span></li><li><span class="TLline"><a href="/medgen/324959" ref="tree=MeSH" title="MedGen record for Mesomelia-synostoses syndrome">Mesomelia-synostoses syndrome</a></span></li><li><span class="TLline"><a href="/medgen/350598" ref="tree=MeSH" title="MedGen record for Osebold-Remondini syndrome">Osebold-Remondini syndrome</a></span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37128177">Evaluation of polysomnography findings in children with genetic skeletal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nayır Büyükşahin H,
|
||
Emiralioglu N,
|
||
Simşek Kiper PÖ,
|
||
Sunman B,
|
||
Güzelkaş I,
|
||
Alboğa D,
|
||
Akgül Erdal M,
|
||
Boduroglu K,
|
||
Utine GE,
|
||
Yalcın E,
|
||
Doğru D,
|
||
Kiper N,
|
||
Ozcelik U</span><br />
|
||
<span class="medgenPMjournal">J Sleep Res</span>
|
||
2023 Oct;32(5):e13914.
|
||
Epub 2023 May 1
|
||
doi: 10.1111/jsr.13914.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37128177" target="_blank">37128177</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22acromesomelic%20dysplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31965514">Skeletal ciliopathies: a pattern recognition approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Handa A,
|
||
Voss U,
|
||
Hammarsjö A,
|
||
Grigelioniene G,
|
||
Nishimura G</span><br />
|
||
<span class="medgenPMjournal">Jpn J Radiol</span>
|
||
2020 Mar;38(3):193-206.
|
||
Epub 2020 Jan 21
|
||
doi: 10.1007/s11604-020-00920-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31965514" target="_blank">31965514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29322508">A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ullah A,
|
||
Umair M,
|
||
Muhammad D,
|
||
Bilal M,
|
||
Lee K,
|
||
Leal SM,
|
||
Ahmad W</span><br />
|
||
<span class="medgenPMjournal">Ann Hum Genet</span>
|
||
2018 May;82(3):129-134.
|
||
Epub 2018 Jan 10
|
||
doi: 10.1111/ahg.12233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29322508" target="_blank">29322508</a><a href="/pmc/articles/PMC6141004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21185863">Regulation and therapeutic targeting of peptide-activated receptor guanylyl cyclases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Potter LR</span><br />
|
||
<span class="medgenPMjournal">Pharmacol Ther</span>
|
||
2011 Apr;130(1):71-82.
|
||
Epub 2010 Dec 24
|
||
doi: 10.1016/j.pharmthera.2010.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21185863" target="_blank">21185863</a><a href="/pmc/articles/PMC4856048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10845568">Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ianakiev P,
|
||
Kilpatrick MW,
|
||
Daly MJ,
|
||
Zolindaki A,
|
||
Bagley D,
|
||
Beighton G,
|
||
Beighton P,
|
||
Tsipouras P</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2000 Apr;57(4):278-83.
|
||
doi: 10.1034/j.1399-0004.2000.570406.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10845568" target="_blank">10845568</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3291617">A case of chondrodystrophic dwarfism in the Italian late Upper Paleolithic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frayer DW,
|
||
Macchiarelli R,
|
||
Mussi M</span><br />
|
||
<span class="medgenPMjournal">Am J Phys Anthropol</span>
|
||
1988 Apr;75(4):549-65.
|
||
doi: 10.1002/ajpa.1330750412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3291617" target="_blank">3291617</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromesomelic%20dysplasia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34016806">Rare case of dual diagnosis in consanguineous family: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agrawal N,
|
||
Mandal K</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2021 Jul 1;30(3):164-166.
|
||
doi: 10.1097/MCD.0000000000000374.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34016806" target="_blank">34016806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33854687">A case report of Arnold Chiari type 1 malformation in acromesomelic dwarf infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maurya MR,
|
||
Ravi R,
|
||
Pungavkar SA</span><br />
|
||
<span class="medgenPMjournal">Pan Afr Med J</span>
|
||
2021;38:58.
|
||
Epub 2021 Jan 18
|
||
doi: 10.11604/pamj.2021.38.58.27295.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33854687" target="_blank">33854687</a><a href="/pmc/articles/PMC8017357" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31077548">Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tran TH,
|
||
Cao MH,
|
||
Luong LH,
|
||
Le PT,
|
||
Vu DC,
|
||
Ta TD,
|
||
Bui TH,
|
||
Nguyen DH,
|
||
Van Ta T,
|
||
Tran VK</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Aug;179(8):1420-1422.
|
||
Epub 2019 May 11
|
||
doi: 10.1002/ajmg.a.61192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31077548" target="_blank">31077548</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25703509">Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang SR,
|
||
Jacobsen CM,
|
||
Carmichael H,
|
||
Edmund AB,
|
||
Robinson JW,
|
||
Olney RC,
|
||
Miller TC,
|
||
Moon JE,
|
||
Mericq V,
|
||
Potter LR,
|
||
Warman ML,
|
||
Hirschhorn JN,
|
||
Dauber A</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2015 Apr;36(4):474-81.
|
||
Epub 2015 Mar 16
|
||
doi: 10.1002/humu.22773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25703509" target="_blank">25703509</a><a href="/pmc/articles/PMC4382411" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7433666">Acromesomelic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langer LO,
|
||
Garrett RT</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
1980 Nov;137(2):349-55.
|
||
doi: 10.1148/radiology.137.2.7433666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7433666" target="_blank">7433666</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromesomelic%20dysplasia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34565054">NPR2 gene variants in familial short stature: a single-center study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan K,
|
||
Chen J,
|
||
Chen Q,
|
||
Chen H,
|
||
Zhu J,
|
||
Fang Y,
|
||
Wang C</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2022 Feb 23;35(2):185-190.
|
||
Epub 2021 Sep 27
|
||
doi: 10.1515/jpem-2021-0332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34565054" target="_blank">34565054</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33238275">Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arya VB,
|
||
Raj M,
|
||
Younes M,
|
||
Chapman S,
|
||
Irving M,
|
||
Kapoor RR,
|
||
Buchanan CR</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2020;93(5):335-342.
|
||
Epub 2020 Nov 25
|
||
doi: 10.1159/000511874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33238275" target="_blank">33238275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23065701">A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geister KA,
|
||
Brinkmeier ML,
|
||
Hsieh M,
|
||
Faust SM,
|
||
Karolyi IJ,
|
||
Perosky JE,
|
||
Kozloff KM,
|
||
Conti M,
|
||
Camper SA</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2013 Jan 15;22(2):345-57.
|
||
Epub 2012 Oct 12
|
||
doi: 10.1093/hmg/dds432.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23065701" target="_blank">23065701</a><a href="/pmc/articles/PMC4817088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16291870">Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Potter LR,
|
||
Abbey-Hosch S,
|
||
Dickey DM</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2006 Feb;27(1):47-72.
|
||
Epub 2005 Nov 16
|
||
doi: 10.1210/er.2005-0014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16291870" target="_blank">16291870</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromesomelic%20dysplasia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37789084">Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akgun-Dogan O,
|
||
Díaz-González F,
|
||
de Lima Jorge AA,
|
||
Onenli-Mungan N,
|
||
Menezes Andrade NL,
|
||
de Polli Cellin L,
|
||
Ceylaner S,
|
||
Barcellos Rosa Modkovski M,
|
||
Alanay Y,
|
||
Heath KE</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Oct;32(10):1250-1256.
|
||
Epub 2023 Oct 4
|
||
doi: 10.1038/s41431-023-01472-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37789084" target="_blank">37789084</a><a href="/pmc/articles/PMC11500347" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37524292">A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lhousni S,
|
||
Charif M,
|
||
Derouich Y,
|
||
Elidrissi Errahhali M,
|
||
Elidrissi Errahhali M,
|
||
Ouarzane M,
|
||
Lenaers G,
|
||
Boulouiz R,
|
||
Belahcen M,
|
||
Bellaoui M</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2023 Oct;175:116860.
|
||
Epub 2023 Jul 29
|
||
doi: 10.1016/j.bone.2023.116860.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37524292" target="_blank">37524292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37128177">Evaluation of polysomnography findings in children with genetic skeletal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nayır Büyükşahin H,
|
||
Emiralioglu N,
|
||
Simşek Kiper PÖ,
|
||
Sunman B,
|
||
Güzelkaş I,
|
||
Alboğa D,
|
||
Akgül Erdal M,
|
||
Boduroglu K,
|
||
Utine GE,
|
||
Yalcın E,
|
||
Doğru D,
|
||
Kiper N,
|
||
Ozcelik U</span><br />
|
||
<span class="medgenPMjournal">J Sleep Res</span>
|
||
2023 Oct;32(5):e13914.
|
||
Epub 2023 May 1
|
||
doi: 10.1111/jsr.13914.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37128177" target="_blank">37128177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34162036">Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kılıç E,
|
||
Çavdarlı B,
|
||
Büyükyılmaz G,
|
||
Kılıç M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2021 Sep 27;34(9):1115-1121.
|
||
Epub 2021 Jun 24
|
||
doi: 10.1515/jpem-2021-0055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34162036" target="_blank">34162036</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15832960">Acromesomelic dysplasia with bronchiectasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farnaz S,
|
||
Gothi D,
|
||
Joshi JM</span><br />
|
||
<span class="medgenPMjournal">Indian J Chest Dis Allied Sci</span>
|
||
2005 Apr-Jun;47(2):131-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15832960" target="_blank">15832960</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromesomelic%20dysplasia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35455946">Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Q,
|
||
Fan X,
|
||
Lu W,
|
||
Sun C,
|
||
Pei Z,
|
||
Zhang M,
|
||
Ni J,
|
||
Wu J,
|
||
Yu FX,
|
||
Luo F</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 Apr 8;11(8)
|
||
doi: 10.3390/cells11081265.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35455946" target="_blank">35455946</a><a href="/pmc/articles/PMC9024524" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29322508">A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ullah A,
|
||
Umair M,
|
||
Muhammad D,
|
||
Bilal M,
|
||
Lee K,
|
||
Leal SM,
|
||
Ahmad W</span><br />
|
||
<span class="medgenPMjournal">Ann Hum Genet</span>
|
||
2018 May;82(3):129-134.
|
||
Epub 2018 Jan 10
|
||
doi: 10.1111/ahg.12233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29322508" target="_blank">29322508</a><a href="/pmc/articles/PMC6141004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25703509">Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang SR,
|
||
Jacobsen CM,
|
||
Carmichael H,
|
||
Edmund AB,
|
||
Robinson JW,
|
||
Olney RC,
|
||
Miller TC,
|
||
Moon JE,
|
||
Mericq V,
|
||
Potter LR,
|
||
Warman ML,
|
||
Hirschhorn JN,
|
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Dauber A</span><br />
|
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<span class="medgenPMjournal">Hum Mutat</span>
|
||
2015 Apr;36(4):474-81.
|
||
Epub 2015 Mar 16
|
||
doi: 10.1002/humu.22773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25703509" target="_blank">25703509</a><a href="/pmc/articles/PMC4382411" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10845568">Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ianakiev P,
|
||
Kilpatrick MW,
|
||
Daly MJ,
|
||
Zolindaki A,
|
||
Bagley D,
|
||
Beighton G,
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||
Beighton P,
|
||
Tsipouras P</span><br />
|
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<span class="medgenPMjournal">Clin Genet</span>
|
||
2000 Apr;57(4):278-83.
|
||
doi: 10.1034/j.1399-0004.2000.570406.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10845568" target="_blank">10845568</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10160422">Ocular manifestations of genetic and development diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diamond GR</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
1995 Dec;6(6):70-6.
|
||
doi: 10.1097/00055735-199512000-00012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10160422" target="_blank">10160422</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acromesomelic%20dysplasia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div></div>
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