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<meta name="keywords" content="C4479496, craniosynostosis 7, craniosynostosis 7, digenic, craniosynostosis 7, susceptibility to, crs7, crs7, digenic, disease or syndrome, smad6, 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="Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1392447
|
||
ConceptID=C4479496
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Craniosynostosis 7<span class="h1sub">(CRS7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1392447</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:">C4479496</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>CRANIOSYNOSTOSIS 7, DIGENIC; CRS7; CRS7, DIGENIC</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SMAD6 - ID: 4091 - NCBI Gene" href="/gene/4091" class="medgenPMinfo">SMAD6</a> (15q22.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0044315" target="_blank">MONDO:0044315</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617439" target="_blank">617439</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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">Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868344"><div><strong>Neurodevelopmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868344</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.">C4022738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868344">Feature record</a> | <a href="/medgen?term=%22Neurodevelopmental%20delay%22%5BClinical%20Features%5D%20OR%20868344%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1163"><div><strong>Craniosynostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1163</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.">C0010278</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1163">Feature record</a> | <a href="/medgen?term=%22Craniosynostosis%20syndrome%22%5BClinical%20Features%5D%20OR%201163%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniosynostosis syndrome</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental delay</a></span></li></ul></li></ul></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/31068690">Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
||
Emma F,
|
||
Eastwood DM,
|
||
Biosse Duplan M,
|
||
Bacchetta J,
|
||
Schnabel D,
|
||
Wicart P,
|
||
Bockenhauer D,
|
||
Santos F,
|
||
Levtchenko E,
|
||
Harvengt P,
|
||
Kirchhoff M,
|
||
Di Rocco F,
|
||
Chaussain C,
|
||
Brandi ML,
|
||
Savendahl L,
|
||
Briot K,
|
||
Kamenicky P,
|
||
Rejnmark L,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2019 Jul;15(7):435-455.
|
||
doi: 10.1038/s41581-019-0152-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31068690" target="_blank">31068690</a><a href="/pmc/articles/PMC7136170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29392564">Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kutkowska-Kaźmierczak A,
|
||
Gos M,
|
||
Obersztyn E</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2018 May;59(2):133-147.
|
||
Epub 2018 Feb 1
|
||
doi: 10.1007/s13353-017-0423-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29392564" target="_blank">29392564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16025797">Management of craniofacial abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woolley EJ,
|
||
Richardson D,
|
||
May P</span><br />
|
||
<span class="medgenPMjournal">Hosp Med</span>
|
||
2005 Jul;66(7):405-10.
|
||
doi: 10.12968/hmed.2005.66.7.18385.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16025797" target="_blank">16025797</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(craniosynostosis%207)%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 (55)</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/36625797">Positional Plagiocephaly and Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santiago GS,
|
||
Santiago CN,
|
||
Chwa ES,
|
||
Purnell CA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Ann</span>
|
||
2023 Jan;52(1):e10-e17.
|
||
Epub 2023 Jan 1
|
||
doi: 10.3928/19382359-20221114-03.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36625797" target="_blank">36625797</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35043707">Parental Satisfaction from Telemedicine in the Follow-up of Children Operated for Craniosynostosis during COVID-19 Pandemic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kilipiris EG,
|
||
Horn F,
|
||
Kolnikova M,
|
||
Ochoa JV,
|
||
Matuskova O,
|
||
Jelovac D,
|
||
Stebel A</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2023 May;60(5):562-568.
|
||
Epub 2022 Jan 19
|
||
doi: 10.1177/10556656221074214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35043707" target="_blank">35043707</a><a href="/pmc/articles/PMC10102827" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33844462">Craniosynostosis is a feature of CHD7-related CHARGE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Luca C,
|
||
Picone S,
|
||
Cassina M,
|
||
Marziali S,
|
||
Morlino S,
|
||
Camerota L,
|
||
Tamburrini G,
|
||
Castori M,
|
||
Paolillo P,
|
||
Salviati L,
|
||
Brancati F</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Jul;185(7):2160-2163.
|
||
Epub 2021 Apr 12
|
||
doi: 10.1002/ajmg.a.62208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33844462" target="_blank">33844462</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33496070">CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Legare JM,
|
||
Pauli RM,
|
||
Hecht JT,
|
||
Bober MB,
|
||
Smid CJ,
|
||
Modaff P,
|
||
Little ME,
|
||
Rodriguez-Buritica DF,
|
||
Serna ME,
|
||
Alade AY,
|
||
Liu C,
|
||
Hoover-Fong JE,
|
||
Hashmi SS</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Apr;185(4):1168-1174.
|
||
Epub 2021 Jan 26
|
||
doi: 10.1002/ajmg.a.62096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33496070" target="_blank">33496070</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20948412">The variable position of the ear in lambdoid synostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koshy JC,
|
||
Chike-Obi CJ,
|
||
Hatef DA,
|
||
Sharabi SE,
|
||
Momoh AO,
|
||
Dauser RC,
|
||
Hollier LH Jr</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2011 Jan;66(1):65-8.
|
||
doi: 10.1097/SAP.0b013e3181d6e442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20948412" target="_blank">20948412</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Craniosynostosis%207%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 (918)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36625797">Positional Plagiocephaly and Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santiago GS,
|
||
Santiago CN,
|
||
Chwa ES,
|
||
Purnell CA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Ann</span>
|
||
2023 Jan;52(1):e10-e17.
|
||
Epub 2023 Jan 1
|
||
doi: 10.3928/19382359-20221114-03.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36625797" target="_blank">36625797</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31568777">Craniosynostosis and ENT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Couloigner V,
|
||
Ayari Khalfallah S</span><br />
|
||
<span class="medgenPMjournal">Neurochirurgie</span>
|
||
2019 Nov;65(5):318-321.
|
||
Epub 2019 Sep 27
|
||
doi: 10.1016/j.neuchi.2019.09.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31568777" target="_blank">31568777</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31068690">Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
||
Emma F,
|
||
Eastwood DM,
|
||
Biosse Duplan M,
|
||
Bacchetta J,
|
||
Schnabel D,
|
||
Wicart P,
|
||
Bockenhauer D,
|
||
Santos F,
|
||
Levtchenko E,
|
||
Harvengt P,
|
||
Kirchhoff M,
|
||
Di Rocco F,
|
||
Chaussain C,
|
||
Brandi ML,
|
||
Savendahl L,
|
||
Briot K,
|
||
Kamenicky P,
|
||
Rejnmark L,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2019 Jul;15(7):435-455.
|
||
doi: 10.1038/s41581-019-0152-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31068690" target="_blank">31068690</a><a href="/pmc/articles/PMC7136170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16025797">Management of craniofacial abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woolley EJ,
|
||
Richardson D,
|
||
May P</span><br />
|
||
<span class="medgenPMjournal">Hosp Med</span>
|
||
2005 Jul;66(7):405-10.
|
||
doi: 10.12968/hmed.2005.66.7.18385.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16025797" target="_blank">16025797</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8064818">Saethre-Chotzen syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reardon W,
|
||
Winter RM</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1994 May;31(5):393-6.
|
||
doi: 10.1136/jmg.31.5.393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8064818" target="_blank">8064818</a><a href="/pmc/articles/PMC1049872" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Craniosynostosis%207%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 (493)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31068690">Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
||
Emma F,
|
||
Eastwood DM,
|
||
Biosse Duplan M,
|
||
Bacchetta J,
|
||
Schnabel D,
|
||
Wicart P,
|
||
Bockenhauer D,
|
||
Santos F,
|
||
Levtchenko E,
|
||
Harvengt P,
|
||
Kirchhoff M,
|
||
Di Rocco F,
|
||
Chaussain C,
|
||
Brandi ML,
|
||
Savendahl L,
|
||
Briot K,
|
||
Kamenicky P,
|
||
Rejnmark L,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2019 Jul;15(7):435-455.
|
||
doi: 10.1038/s41581-019-0152-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31068690" target="_blank">31068690</a><a href="/pmc/articles/PMC7136170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29579000">Use of a Midliner Positioning System for Prevention of Dolichocephaly in Preterm Infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCarty DB,
|
||
OʼDonnell S,
|
||
Goldstein RF,
|
||
Smith PB,
|
||
Fisher K,
|
||
Malcolm WF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Phys Ther</span>
|
||
2018 Apr;30(2):126-134.
|
||
doi: 10.1097/PEP.0000000000000487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29579000" target="_blank">29579000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24784879">Helmet therapy in infants with positional skull deformation: randomised controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Wijk RM,
|
||
van Vlimmeren LA,
|
||
Groothuis-Oudshoorn CG,
|
||
Van der Ploeg CP,
|
||
Ijzerman MJ,
|
||
Boere-Boonekamp MM</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2014 May 1;348:g2741.
|
||
doi: 10.1136/bmj.g2741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24784879" target="_blank">24784879</a><a href="/pmc/articles/PMC4006966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17243131">Ovarian dysgerminoma and Apert syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rouzier C,
|
||
Soler C,
|
||
Hofman P,
|
||
Brennetot C,
|
||
Bieth E,
|
||
Pedeutour F</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2008 Mar;50(3):696-8.
|
||
doi: 10.1002/pbc.21156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17243131" target="_blank">17243131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/287758">Syndromology's message for craniofacial biology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen MM Jr</span><br />
|
||
<span class="medgenPMjournal">J Maxillofac Surg</span>
|
||
1979 May;7(2):89-109.
|
||
doi: 10.1016/s0301-0503(79)80021-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/287758" target="_blank">287758</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Craniosynostosis%207%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 (200)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35043707">Parental Satisfaction from Telemedicine in the Follow-up of Children Operated for Craniosynostosis during COVID-19 Pandemic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kilipiris EG,
|
||
Horn F,
|
||
Kolnikova M,
|
||
Ochoa JV,
|
||
Matuskova O,
|
||
Jelovac D,
|
||
Stebel A</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2023 May;60(5):562-568.
|
||
Epub 2022 Jan 19
|
||
doi: 10.1177/10556656221074214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35043707" target="_blank">35043707</a><a href="/pmc/articles/PMC10102827" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34665373">Abnormal biorbital angle in children with infantile exotropia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsukui M,
|
||
Yagasaki T,
|
||
Yokoyama Y</span><br />
|
||
<span class="medgenPMjournal">Jpn J Ophthalmol</span>
|
||
2022 Jan;66(1):81-86.
|
||
Epub 2021 Oct 19
|
||
doi: 10.1007/s10384-021-00881-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34665373" target="_blank">34665373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26703032">A Patient With Pansynostosis and Williams-Beuren Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kansy K,
|
||
Freudlsperger C,
|
||
Hoffmann J,
|
||
Engel M</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2016 Jan;27(1):e4-6.
|
||
doi: 10.1097/SCS.0000000000002207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26703032" target="_blank">26703032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24784879">Helmet therapy in infants with positional skull deformation: randomised controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Wijk RM,
|
||
van Vlimmeren LA,
|
||
Groothuis-Oudshoorn CG,
|
||
Van der Ploeg CP,
|
||
Ijzerman MJ,
|
||
Boere-Boonekamp MM</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2014 May 1;348:g2741.
|
||
doi: 10.1136/bmj.g2741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24784879" target="_blank">24784879</a><a href="/pmc/articles/PMC4006966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9655412">Distraction osteogenesis in the hand.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pensler JM,
|
||
Carroll NC,
|
||
Cheng LF</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1998 Jul;102(1):92-5.
|
||
doi: 10.1097/00006534-199807000-00014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9655412" target="_blank">9655412</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Craniosynostosis%207%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 (368)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34358384">Clinical experience with non-invasive prenatal screening for single-gene disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohan P,
|
||
Lemoine J,
|
||
Trotter C,
|
||
Rakova I,
|
||
Billings P,
|
||
Peacock S,
|
||
Kao CY,
|
||
Wang Y,
|
||
Xia F,
|
||
Eng CM,
|
||
Benn P</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2022 Jan;59(1):33-39.
|
||
doi: 10.1002/uog.23756.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34358384" target="_blank">34358384</a><a href="/pmc/articles/PMC9302116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34356089">Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tiberio F,
|
||
Parolini O,
|
||
Lattanzi W</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Jul 14;12(7)
|
||
doi: 10.3390/genes12071073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34356089" target="_blank">34356089</a><a href="/pmc/articles/PMC8306115" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31568777">Craniosynostosis and ENT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Couloigner V,
|
||
Ayari Khalfallah S</span><br />
|
||
<span class="medgenPMjournal">Neurochirurgie</span>
|
||
2019 Nov;65(5):318-321.
|
||
Epub 2019 Sep 27
|
||
doi: 10.1016/j.neuchi.2019.09.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31568777" target="_blank">31568777</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29180823">HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moortgat S,
|
||
Berland S,
|
||
Aukrust I,
|
||
Maystadt I,
|
||
Baker L,
|
||
Benoit V,
|
||
Caro-Llopis A,
|
||
Cooper NS,
|
||
Debray FG,
|
||
Faivre L,
|
||
Gardeitchik T,
|
||
Haukanes BI,
|
||
Houge G,
|
||
Kivuva E,
|
||
Martinez F,
|
||
Mehta SG,
|
||
Nassogne MC,
|
||
Powell-Hamilton N,
|
||
Pfundt R,
|
||
Rosello M,
|
||
Prescott T,
|
||
Vasudevan P,
|
||
van Loon B,
|
||
Verellen-Dumoulin C,
|
||
Verloes A,
|
||
Lippe CV,
|
||
Wakeling E,
|
||
Wilkie AOM,
|
||
Wilson L,
|
||
Yuen A,
|
||
Study D,
|
||
Low KJ,
|
||
Newbury-Ecob RA</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2018 Jan;26(1):64-74.
|
||
Epub 2017 Nov 27
|
||
doi: 10.1038/s41431-017-0038-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29180823" target="_blank">29180823</a><a href="/pmc/articles/PMC5788272" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24784879">Helmet therapy in infants with positional skull deformation: randomised controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Wijk RM,
|
||
van Vlimmeren LA,
|
||
Groothuis-Oudshoorn CG,
|
||
Van der Ploeg CP,
|
||
Ijzerman MJ,
|
||
Boere-Boonekamp MM</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2014 May 1;348:g2741.
|
||
doi: 10.1136/bmj.g2741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24784879" target="_blank">24784879</a><a href="/pmc/articles/PMC4006966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Craniosynostosis%207%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 (389)</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/37553899">Surgical Management in Isolated Squamosal Craniosynostosis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fallahian F,
|
||
Meyer A,
|
||
Tadisina KK,
|
||
Lin AY</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2023 Oct 1;91(4):493-496.
|
||
Epub 2023 Aug 12
|
||
doi: 10.1097/SAP.0000000000003642.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37553899" target="_blank">37553899</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35636659">Global Epidemiology of Craniosynostosis: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shlobin NA,
|
||
Baticulon RE,
|
||
Ortega CA,
|
||
Du L,
|
||
Bonfield CM,
|
||
Wray A,
|
||
Forrest CR,
|
||
Dewan MC</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2022 Aug;164:413-423.e3.
|
||
Epub 2022 May 27
|
||
doi: 10.1016/j.wneu.2022.05.093.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35636659" target="_blank">35636659</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34949570">Role of tranexamic acid in craniosynostosis surgery: Systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zapata-Copete JA,
|
||
Gómez-Ospina JC,
|
||
García-Perdomo HA,
|
||
Caycedo DJ</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2022 Apr;75(4):1389-1398.
|
||
Epub 2021 Nov 28
|
||
doi: 10.1016/j.bjps.2021.11.064.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34949570" target="_blank">34949570</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34593743">Tranexamic Acid in Craniosynostosis Surgery: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varidel A,
|
||
Marucci D</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2022 Jan-Feb 01;33(1):146-150.
|
||
doi: 10.1097/SCS.0000000000008123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34593743" target="_blank">34593743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30997567">Adenotonsillectomy in children with syndromic craniosynostosis: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saengthong P,
|
||
Chaitusaney B,
|
||
Hirunwiwatkul P,
|
||
Charakorn N</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2019 Jun;276(6):1555-1560.
|
||
Epub 2019 Apr 17
|
||
doi: 10.1007/s00405-019-05427-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30997567" target="_blank">30997567</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Craniosynostosis%207%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 (22)</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>
|
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|
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<!-- MedGen supplemental column starts here -->
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<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_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=C4479496%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C4479496%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=C4479496%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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</ul></div>
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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://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617439" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Craniosynostosis%207" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</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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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(craniosynostosis%207)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602931" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4091[geneid]" target="_blank">View SMAD6 variations in ClinVar</a></li><li><a href="/nuccore/238776808" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=617439" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/craniosynostosis_7" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Craniosynostosis%207" target="_blank">MedlinePlus</a></li></ul></div>
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||
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<div class="portlet brieflink">
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||
<div class="portlet_head">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
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<li>
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||
<a href="/pubmed/clinical?term=Craniosynostosis%207" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Craniosynostosis%207%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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||
</li>
|
||
</ul>
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||
</div>
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||
</div>
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|
||
<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
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||
</div>
|
||
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||
</div>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1392447" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1392447" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4479496[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4479496[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1392447" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1392447" ref="log$=recordlinks">OMIM(Genes)</a>
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