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<!--
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||
UID=348010
|
||
ConceptID=C1860050
|
||
-->
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||
<!--imgCountBooks = 0--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Figure 1" src="/projects/medgen/images/thumb/784956e8f2b55a24.1.thumb.jpg" src-large="/projects/medgen/images/784956e8f2b55a24.1.jpg" /></a><br /><a href="http://elementsofmorphology.nih.gov/index.cgi?tid=784956e8f2b55a24" target="_blank" title="Elements of Morphology: Human Malformation Terminology - NHGRI">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Cloverleaf skull</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348010</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.">C1860050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CLOVERLEAF SKULL; Cloverleaf-shaped skull; KLEEBLATTSCHADEL; KLEEBLATTSCHAEDEL</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002676">HP:0002676</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/148800" target="_blank">148800</a></td></tr>
|
||
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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>
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||
<div class="portlet_content ln">Trilobar skull configuration when viewed from the front or behind. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1860050[DISCUI]&test_type=Clinical" ref="ncbi_uid=348010">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=348010" target="_blank" href="/omim/148800">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Cloverleaf skull</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488801" ref="tree=MeSH" title="MedGen record for Abnormal skull morphology">Abnormal skull morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871212" ref="tree=MeSH" title="MedGen record for Abnormal calvaria morphology">Abnormal calvaria morphology</a></span><ul><li><span class="matched_ds">Cloverleaf skull</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_67390"><div><strong>Pfeiffer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67390</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.">C0220658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67390">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98141"><div><strong>Cloverleaf skull syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98141</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.">C0432126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cloverleaf skull, or Kleeblattschaedel, consists of a trilobular skull with craniosynostosis. The condition shows pathogenetic variability and etiologic heterogeneity. The cause of isolated cloverleaf skull is unknown (Cohen, 2009). Cohen (1975) pointed out that Kleeblattschaedel is a component of many syndromes, e.g., it is found in some cases of Crouzon syndrome (123500), Pfeiffer syndrome (101600), and Carpenter syndrome (201000). Cohen (2009) listed 12 monogenic disorders with cloverleaf skull as a feature, including type II thanatophoric dysplasia (187601), which accounts for 40% of all cloverleaf skull syndromes. Cohen (2009) published photographs of cloverleaf skull in various syndromes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98141">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96592"><div><strong>Osteoglophonic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96592</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.">C0432283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoglophonic dysplasia (OGD) is characterized by multisuture craniosynostosis (including cloverleaf skull), distinctive craniofacial features (prominent forehead, proptosis, widely spaced eyes, low-set ears, midface retrusion, short nose, anteverted nares, prognathism, high palate, failure of tooth eruption, and gingival overgrowth), profound short stature with rhizomelia, and short, broad hands and feet. Radiographs show copper beaten appearance to skull, multiple cystic long bone lesions consistent with non-ossifying fibromas, irregular vertebral bodies, and osteopenia with increased risk of fractures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96592">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_226975"><div><strong>Thanatophoric dysplasia, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226975</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.">C1300257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type 1 is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type 2 is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe craniosynostosis with cloverleaf skull deformity. Other features common to type 1 and type 2 include: short ribs, narrow thorax, relative macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/226975">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322531"><div><strong>Micromelic bone dysplasia with cloverleaf skull</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322531</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.">C1834928</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322531">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_377668"><div><strong>Beare-Stevenson cutis gyrata syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377668</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.">C1852406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death (summary by Przylepa et al., 1996).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377668">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355217"><div><strong>Muenke syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355217</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.">C1864436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muenke syndrome is characterized by considerable phenotypic variability; features may include coronal synostosis (more often bilateral than unilateral); synostosis of other sutures, all sutures (pan synostosis), or no sutures; or macrocephaly. Bilateral coronal synostosis typically results in brachycephaly, although turribrachycephaly (a "tower-shaped" skull) or a cloverleaf skull can be observed. Unilateral coronal synostosis results in anterior plagiocephaly. Other craniofacial findings typically include temporal bossing, widely spaced eyes, ptosis or mild proptosis, mild midface retrusion, and highly arched palate or cleft lip and palate. Strabismus is common. Other findings can include hearing loss, developmental delay, intellectual disability, behavioral issues, intracranial anomalies, epilepsy, ocular anomalies, brachydactyly, carpal and/or tarsal bone fusions, broad thumbs and great toes, clinodactyly, and radiographic findings of short and broad middle phalanges and/or cone-shaped epiphyses. Of note, some individuals who have the p.Pro250Arg pathogenic variant may have no signs of Muenke syndrome on physical or radiographic examination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355217">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358383"><div><strong>Thanatophoric dysplasia type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358383</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.">C1868678</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type 1 is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type 2 is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe craniosynostosis with cloverleaf skull deformity. Other features common to type 1 and type 2 include: short ribs, narrow thorax, relative macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358383">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461449"><div><strong>Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461449</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.">C3150099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461449">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462224"><div><strong>Cranioectodermal dysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462224</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.">C3150874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462224">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1381460"><div><strong>Immunoskeletal dysplasia with neurodevelopmental abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1381460</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.">C4479452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1381460">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461449" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_377668" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beare-Stevenson cutis gyrata syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98141" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cloverleaf skull syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462224" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cranioectodermal dysplasia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1381460" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunoskeletal dysplasia with neurodevelopmental abnormalities</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micromelic bone dysplasia with cloverleaf skull</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355217" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muenke syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoglophonic dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pfeiffer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thanatophoric dysplasia type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_226975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thanatophoric dysplasia, type 2</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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/35205306">Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosato S,
|
||
Unger S,
|
||
Campos-Xavier B,
|
||
Caraffi SG,
|
||
Beltrami L,
|
||
Pollazzon M,
|
||
Ivanovski I,
|
||
Castori M,
|
||
Bonasoni MP,
|
||
Comitini G,
|
||
Nikkels PGJ,
|
||
Lindstrom K,
|
||
Umandap C,
|
||
Superti-Furga A,
|
||
Garavelli L</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Jan 28;13(2)
|
||
doi: 10.3390/genes13020261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35205306" target="_blank">35205306</a><a href="/pmc/articles/PMC8871755" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26914936">Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rubio EI,
|
||
Blask A,
|
||
Bulas DI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2016 May;46(5):709-18.
|
||
Epub 2016 Feb 25
|
||
doi: 10.1007/s00247-016-3550-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26914936" target="_blank">26914936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1481860">Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Machin GA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1992 Dec 1;44(6):842-3.
|
||
doi: 10.1002/ajmg.1320440628.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1481860" target="_blank">1481860</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cloverleaf%20skull%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 (7)</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/37594030">Facial Fat Graft Injection Reduces Asymmetry and Improves Forehead Contour in Early Infancy Apert Syndrome Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raposo-Amaral CE,
|
||
Menezes PT,
|
||
Lemes MV,
|
||
Medeiros ML,
|
||
Raposo-Amaral CA,
|
||
Ghizoni E</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2023 Oct 1;34(7):1934-1937.
|
||
Epub 2023 Aug 18
|
||
doi: 10.1097/SCS.0000000000009610.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37594030" target="_blank">37594030</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34570275">Management of ventriculomegaly in pediatric patients with syndromic craniosynostosis: a single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tcherbbis Testa V,
|
||
Jaimovich S,
|
||
Argañaraz R,
|
||
Mantese B</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
2021 Nov;163(11):3083-3091.
|
||
Epub 2021 Sep 27
|
||
doi: 10.1007/s00701-021-04980-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34570275" target="_blank">34570275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33713165">Linear craniectomy for early posterior decompression in craniosynostoses: technique and results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vinchon M,
|
||
Guerreschi P,
|
||
Karnoub MA,
|
||
Wolber A</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2021 Oct;37(10):3113-3118.
|
||
Epub 2021 Mar 13
|
||
doi: 10.1007/s00381-021-05117-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33713165" target="_blank">33713165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21928032">Cloverleaf skull deformity and hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Machado G,
|
||
Di Rocco F,
|
||
Sainte-Rose C,
|
||
Meyer P,
|
||
Marchac D,
|
||
Macquet-Nouvion G,
|
||
Arnaud E,
|
||
Renier D</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2011 Oct;27(10):1683-91.
|
||
Epub 2011 Sep 17
|
||
doi: 10.1007/s00381-011-1508-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21928032" target="_blank">21928032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4951548">Cloverleaf skull: Kleeblattschädel-deformity syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Angle CR,
|
||
McIntire MS,
|
||
Moore RC</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1967 Aug;114(2):198-202.
|
||
doi: 10.1001/archpedi.1967.02090230128018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4951548" target="_blank">4951548</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cloverleaf%20skull%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 (25)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/33083874">Nervous system involvement in Pfeiffer syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Mavridis IN,
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Rodrigues D</span><br />
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|
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2021 Feb;37(2):367-374.
|
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Epub 2020 Oct 20
|
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doi: 10.1007/s00381-020-04934-7.
|
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<span class="bold">PMID: </span><a href="/pubmed/33083874" target="_blank">33083874</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16740155">Pfeiffer syndrome.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/7426902">The cloverleaf skull.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19856868">Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/11506318" target="_blank">11506318</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cloverleaf%20skull%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33083874">Nervous system involvement in Pfeiffer syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mavridis IN,
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Rodrigues D</span><br />
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<span class="medgenPMjournal">Childs Nerv Syst</span>
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Epub 2020 Oct 20
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doi: 10.1007/s00381-020-04934-7.
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<span class="bold">PMID: </span><a href="/pubmed/33083874" target="_blank">33083874</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/21928032" target="_blank">21928032</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Turner PT,
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<div class="nl"><a target="_blank" href="/pubmed/4951548">Cloverleaf skull: Kleeblattschädel-deformity syndrome.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cloverleaf%20skull%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 (32)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35205306">Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rosato S,
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Unger S,
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Campos-Xavier B,
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Caraffi SG,
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Beltrami L,
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Pollazzon M,
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Ivanovski I,
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Castori M,
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Bonasoni MP,
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Comitini G,
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Nikkels PGJ,
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<span class="bold">PMID: </span><a href="/pubmed/35205306" target="_blank">35205306</a><a href="/pmc/articles/PMC8871755" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33713165">Linear craniectomy for early posterior decompression in craniosynostoses: technique and results.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vinchon M,
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Epub 2021 Mar 13
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||
<span class="bold">PMID: </span><a href="/pubmed/33713165" target="_blank">33713165</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/33083874">Nervous system involvement in Pfeiffer syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mavridis IN,
|
||
Rodrigues D</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2021 Feb;37(2):367-374.
|
||
Epub 2020 Oct 20
|
||
doi: 10.1007/s00381-020-04934-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33083874" target="_blank">33083874</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15980644">Prenatal diagnosis of cloverleaf skull: watch the hands!</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gorincour G,
|
||
Rypens F,
|
||
Grignon A,
|
||
Garel L,
|
||
Bortoluzzi P,
|
||
Oligny L,
|
||
Lemyre E,
|
||
Duperron L</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2005 Jul-Aug;20(4):296-300.
|
||
doi: 10.1159/000085089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15980644" target="_blank">15980644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7413041">Generous craniectomy for Kleeblattschädel anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner PT,
|
||
Reynolds AF</span><br />
|
||
<span class="medgenPMjournal">Neurosurgery</span>
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||
1980 May;6(5):555-8.
|
||
doi: 10.1227/00006123-198005000-00011.
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<span class="bold">PMID: </span><a href="/pubmed/7413041" target="_blank">7413041</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cloverleaf%20skull%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 (25)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/34570275">Management of ventriculomegaly in pediatric patients with syndromic craniosynostosis: a single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tcherbbis Testa V,
|
||
Jaimovich S,
|
||
Argañaraz R,
|
||
Mantese B</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
2021 Nov;163(11):3083-3091.
|
||
Epub 2021 Sep 27
|
||
doi: 10.1007/s00701-021-04980-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34570275" target="_blank">34570275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33083874">Nervous system involvement in Pfeiffer syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mavridis IN,
|
||
Rodrigues D</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2021 Feb;37(2):367-374.
|
||
Epub 2020 Oct 20
|
||
doi: 10.1007/s00381-020-04934-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33083874" target="_blank">33083874</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cloverleaf%20skull%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1860050%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1860050%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1860050%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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</ul></div>
|
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</div>
|
||
|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Cloverleaf%20skull" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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