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1026 lines
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117 KiB
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<!--
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UID=57466
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ConceptID=C0151491
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital anomaly of musculoskeletal system</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57466</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.">C0151491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormalities, Musculoskeletal; Abnormality, Musculoskeletal; Musculoskeletal Abnormalities; Musculoskeletal Abnormality</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital anomaly of musculoskeletal system (73573004); Congenital deformity of musculoskeletal system (73573004); Congenital musculoskeletal abnormality (73573004); Congenital malformation and deformation of the musculoskeletal system (73573004); Congenital abnormality of musculoskeletal system (73573004); Congenital malformation of musculoskeletal system (73573004)</td></tr>
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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">An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Congenital anomaly of musculoskeletal system</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="matched_ds">Congenital anomaly of musculoskeletal system</span><ul><li><span class="TLline"><a href="/medgen/3337" ref="tree=MeSH" title="MedGen record for Arterial thoracic outlet syndrome due to cervical rib">Arterial thoracic outlet syndrome due to cervical rib</a></span></li><li><span class="TLline"><a href="/medgen/2455" ref="tree=MeSH" title="MedGen record for Arthrogryposis">Arthrogryposis</a></span><ul><li><span class="TLline"><a href="/medgen/67391" ref="tree=MeSH" title="MedGen record for Congenital contractural arachnodactyly">Congenital contractural arachnodactyly</a></span></li><li><span class="TLline"><a href="/medgen/120516" ref="tree=MeSH" title="MedGen record for Freeman-Sheldon syndrome">Freeman-Sheldon syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/527772" ref="tree=MeSH" title="MedGen record for Bone structure of L6">Bone structure of L6</a></span></li><li><span class="TLline"><a href="/medgen/354620" ref="tree=MeSH" title="MedGen record for Camptomelic dysplasia">Camptomelic dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/396251" ref="tree=MeSH" title="MedGen record for Acampomelic campomelic dysplasia">Acampomelic campomelic dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/60222" ref="tree=MeSH" title="MedGen record for Congenital deformities of limbs">Congenital deformities of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/2047" ref="tree=MeSH" title="MedGen record for Arachnodactyly">Arachnodactyly</a></span></li><li><span class="TLline"><a href="/medgen/67454" ref="tree=MeSH" title="MedGen record for Brachydactyly">Brachydactyly</a></span><ul><li><span class="TLline"><a href="/medgen/722046" ref="tree=MeSH" title="MedGen record for Brachydactyly type B">Brachydactyly type B</a></span></li><li><span class="TLline"><a href="/medgen/350590" ref="tree=MeSH" title="MedGen record for Brachydactyly type C">Brachydactyly type C</a></span></li><li><span class="TLline"><a href="/medgen/66313" ref="tree=MeSH" title="MedGen record for Brachydactyly type D">Brachydactyly type D</a></span></li><li><span class="TLline"><a href="/medgen/939359" ref="tree=MeSH" title="MedGen record for Brachydactyly type E">Brachydactyly type E</a></span></li><li><span class="TLline"><a href="/medgen/376120" ref="tree=MeSH" title="MedGen record for Brachytelomesophalangy">Brachytelomesophalangy</a></span></li><li><span class="TLline"><a href="/medgen/869982" ref="tree=MeSH" title="MedGen record for Type A brachydactyly">Type A brachydactyly</a></span></li><li><span class="TLline"><a href="/medgen/357435" ref="tree=MeSH" title="MedGen record for Unilateral brachydactyly">Unilateral brachydactyly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/395251" ref="tree=MeSH" title="MedGen record for Congenital bowing of long bones">Congenital bowing of long bones</a></span></li><li><span class="TLline"><a href="/medgen/96571" ref="tree=MeSH" title="MedGen record for Congenital deformity of lower limb">Congenital deformity of lower limb</a></span><ul><li><span class="TLline"><a href="/medgen/4762" ref="tree=MeSH" title="MedGen record for Congenital deformity of foot">Congenital deformity of foot</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/152892" ref="tree=MeSH" title="MedGen record for Congenital deformity of upper limb">Congenital deformity of upper limb</a></span><ul><li><span class="TLline"><a href="/medgen/6717" ref="tree=MeSH" title="MedGen record for Congenital deformity of hand">Congenital deformity of hand</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66821" ref="tree=MeSH" title="MedGen record for Congenital vertical talus">Congenital vertical talus</a></span><ul><li><span class="TLline"><a href="/medgen/349821" ref="tree=MeSH" title="MedGen record for Congenital vertical talus, bilateral">Congenital vertical talus, bilateral</a></span></li><li><span class="TLline"><a href="/medgen/1842526" ref="tree=MeSH" title="MedGen record for Congenital vertical talus, unilateral">Congenital vertical talus, unilateral</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3966" ref="tree=MeSH" title="MedGen record for Ectromelia">Ectromelia</a></span><ul><li><span class="TLline"><a href="/medgen/8014" ref="tree=MeSH" title="MedGen record for Amelia">Amelia</a></span></li><li><span class="TLline"><a href="/medgen/9194" ref="tree=MeSH" title="MedGen record for Hemimelia">Hemimelia</a></span></li><li><span class="TLline"><a href="/medgen/10721" ref="tree=MeSH" title="MedGen record for Phocomelia">Phocomelia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57774" ref="tree=MeSH" title="MedGen record for Polydactyly">Polydactyly</a></span><ul><li><span class="TLline"><a href="/medgen/609220" ref="tree=MeSH" title="MedGen record for Central polydactyly of fingers">Central polydactyly of fingers</a></span></li><li><span class="TLline"><a href="/medgen/510637" ref="tree=MeSH" title="MedGen record for Foot polydactyly">Foot polydactyly</a></span></li><li><span class="TLline"><a href="/medgen/510636" ref="tree=MeSH" title="MedGen record for Hand polydactyly">Hand polydactyly</a></span></li><li><span class="TLline"><a href="/medgen/1814580" ref="tree=MeSH" title="MedGen record for Mirror image polydactyly">Mirror image polydactyly</a></span></li><li><span class="TLline"><a href="/medgen/120514" ref="tree=MeSH" title="MedGen record for Pallister-Hall syndrome">Pallister-Hall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/67394" ref="tree=MeSH" title="MedGen record for Postaxial polydactyly">Postaxial polydactyly</a></span></li><li><span class="TLline"><a href="/medgen/87498" ref="tree=MeSH" title="MedGen record for Preaxial polydactyly">Preaxial polydactyly</a></span></li><li><span class="TLline"><a href="/medgen/11412" ref="tree=MeSH" title="MedGen record for Short rib-polydactyly syndrome">Short rib-polydactyly syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/39008" ref="tree=MeSH" title="MedGen record for Proteus syndrome">Proteus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/52619" ref="tree=MeSH" title="MedGen record for Syndactyly">Syndactyly</a></span><ul><li><span class="TLline"><a href="/medgen/267602" ref="tree=MeSH" title="MedGen record for Acrocephalosyndactyly">Acrocephalosyndactyly</a></span></li><li><span class="TLline"><a href="/medgen/82692" ref="tree=MeSH" title="MedGen record for Cryptophthalmos syndrome">Cryptophthalmos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/396250" ref="tree=MeSH" title="MedGen record for Cutaneous syndactyly">Cutaneous syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/65139" ref="tree=MeSH" title="MedGen record for Finger syndactyly">Finger syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/1842957" ref="tree=MeSH" title="MedGen record for Non-syndromic syndactyly">Non-syndromic syndactyly</a></span></li><li><span class="TLline"><a href="/medgen/10822" ref="tree=MeSH" title="MedGen record for Poland anomaly">Poland anomaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21124" ref="tree=MeSH" title="MedGen record for Thanatophoric dysplasia">Thanatophoric dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/358383" ref="tree=MeSH" title="MedGen record for Thanatophoric dysplasia type 1">Thanatophoric dysplasia type 1</a></span></li><li><span class="TLline"><a href="/medgen/376457" ref="tree=MeSH" title="MedGen record for Thanatophoric dysplasia, Glasgow variant">Thanatophoric dysplasia, Glasgow variant</a></span></li><li><span class="TLline"><a href="/medgen/226975" ref="tree=MeSH" title="MedGen record for Thanatophoric dysplasia, type 2">Thanatophoric dysplasia, type 2</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/120500" ref="tree=MeSH" title="MedGen record for Congenital laryngomalacia">Congenital laryngomalacia</a></span></li><li><span class="TLline"><a href="/medgen/5293" ref="tree=MeSH" title="MedGen record for Congenital pectus excavatum">Congenital pectus excavatum</a></span></li><li><span class="TLline"><a href="/medgen/91281" ref="tree=MeSH" title="MedGen record for Craniofacial Abnormalities">Craniofacial Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/422333" ref="tree=MeSH" title="MedGen record for 22q11 Deletion Syndrome">22q11 Deletion Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/4297" ref="tree=MeSH" title="MedGen record for DiGeorge syndrome">DiGeorge syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3486" ref="tree=MeSH" title="MedGen record for Cleidocranial dysostosis">Cleidocranial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/108454" ref="tree=MeSH" title="MedGen record for Costello syndrome">Costello syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1163" ref="tree=MeSH" title="MedGen record for Craniosynostosis syndrome">Craniosynostosis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/344694" ref="tree=MeSH" title="MedGen record for Coronal craniosynostosis">Coronal craniosynostosis</a></span></li><li><span class="TLline"><a href="/medgen/346753" ref="tree=MeSH" title="MedGen record for Craniosynostosis 2">Craniosynostosis 2</a></span></li><li><span class="TLline"><a href="/medgen/322167" ref="tree=MeSH" title="MedGen record for Craniosynostosis 4">Craniosynostosis 4</a></span></li><li><span class="TLline"><a href="/medgen/866807" ref="tree=MeSH" title="MedGen record for Multiple suture craniosynostosis">Multiple suture craniosynostosis</a></span></li><li><span class="TLline"><a href="/medgen/140921" ref="tree=MeSH" title="MedGen record for Sagittal craniosynostosis">Sagittal craniosynostosis</a></span></li><li><span class="TLline"><a href="/medgen/1863703" ref="tree=MeSH" title="MedGen record for Squamosal suture synostosis">Squamosal suture synostosis</a></span></li><li><span class="TLline"><a href="/medgen/811568" ref="tree=MeSH" title="MedGen record for TCF12-related craniosynostosis">TCF12-related craniosynostosis</a></span></li><li><span class="TLline"><a href="/medgen/1646646" ref="tree=MeSH" title="MedGen record for TWIST1-related craniosynostosis">TWIST1-related craniosynostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1162" ref="tree=MeSH" title="MedGen record for Crouzon syndrome">Crouzon syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/870229" ref="tree=MeSH" title="MedGen record for Congenital craniofacial dysostosis">Congenital craniofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/5414" ref="tree=MeSH" title="MedGen record for Hallermann-Streiff syndrome">Hallermann-Streiff syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9373" ref="tree=MeSH" title="MedGen record for Hypertelorism">Hypertelorism</a></span></li><li><span class="TLline"><a href="/medgen/505796" ref="tree=MeSH" title="MedGen record for Mandibulofacial dysostosis">Mandibulofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/66078" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome">Treacher Collins syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/38214" ref="tree=MeSH" title="MedGen record for Holoprosencephaly sequence">Holoprosencephaly sequence</a></span><ul><li><span class="TLline"><a href="/medgen/78541" ref="tree=MeSH" title="MedGen record for Agnathia-otocephaly complex">Agnathia-otocephaly complex</a></span></li><li><span class="TLline"><a href="/medgen/140909" ref="tree=MeSH" title="MedGen record for Alobar holoprosencephaly">Alobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/382704" ref="tree=MeSH" title="MedGen record for Chromosome 1q41-q42 deletion syndrome">Chromosome 1q41-q42 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/452352" ref="tree=MeSH" title="MedGen record for Ethmocephaly">Ethmocephaly</a></span></li><li><span class="TLline"><a href="/medgen/335111" ref="tree=MeSH" title="MedGen record for Hartsfield-Bixler-Demyer syndrome">Hartsfield-Bixler-Demyer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78617" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 1">Holoprosencephaly 1</a></span></li><li><span class="TLline"><a href="/medgen/322517" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 2">Holoprosencephaly 2</a></span></li><li><span class="TLline"><a href="/medgen/327125" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 3">Holoprosencephaly 3</a></span></li><li><span class="TLline"><a href="/medgen/374488" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 4">Holoprosencephaly 4</a></span></li><li><span class="TLline"><a href="/medgen/355304" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 5">Holoprosencephaly 5</a></span></li><li><span class="TLline"><a href="/medgen/342979" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 6">Holoprosencephaly 6</a></span></li><li><span class="TLline"><a href="/medgen/372134" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 7">Holoprosencephaly 7</a></span></li><li><span class="TLline"><a href="/medgen/322873" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 8">Holoprosencephaly 8</a></span></li><li><span class="TLline"><a href="/medgen/324369" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 9">Holoprosencephaly 9</a></span></li><li><span class="TLline"><a href="/medgen/441620" ref="tree=MeSH" title="MedGen record for Holoprosencephaly caudal dysgenesis">Holoprosencephaly caudal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/441187" ref="tree=MeSH" title="MedGen record for Holoprosencephaly deletion 2p">Holoprosencephaly deletion 2p</a></span></li><li><span class="TLline"><a href="/medgen/441188" ref="tree=MeSH" title="MedGen record for Holoprosencephaly ectrodactyly cleft lip palate">Holoprosencephaly ectrodactyly cleft lip palate</a></span></li><li><span class="TLline"><a href="/medgen/441189" ref="tree=MeSH" title="MedGen record for Holoprosencephaly radial heart renal anomalies">Holoprosencephaly radial heart renal anomalies</a></span></li><li><span class="TLline"><a href="/medgen/343987" ref="tree=MeSH" title="MedGen record for Holoprosencephaly, recurrent infections, and monocytosis">Holoprosencephaly, recurrent infections, and monocytosis</a></span></li><li><span class="TLline"><a href="/medgen/330464" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-craniosynostosis syndrome">Holoprosencephaly-craniosynostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336097" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-hypokinesia-congenital contractures syndrome">Holoprosencephaly-hypokinesia-congenital contractures syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340382" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-postaxial polydactyly syndrome">Holoprosencephaly-postaxial polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343380" ref="tree=MeSH" title="MedGen record for Lambotte syndrome">Lambotte syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96559" ref="tree=MeSH" title="MedGen record for Lobar holoprosencephaly">Lobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/798407" ref="tree=MeSH" title="MedGen record for Midline interhemispheric variant of holoprosencephaly">Midline interhemispheric variant of holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/468539" ref="tree=MeSH" title="MedGen record for NODAL-Related Holoprosencephaly">NODAL-Related Holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/199694" ref="tree=MeSH" title="MedGen record for Semilobar holoprosencephaly">Semilobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1843386" ref="tree=MeSH" title="MedGen record for Septopreoptic holoprosencephaly">Septopreoptic holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1708682" ref="tree=MeSH" title="MedGen record for Syntelencephaly">Syntelencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44422" ref="tree=MeSH" title="MedGen record for Isolated congenital microcephaly">Isolated congenital microcephaly</a></span><ul><li><span class="TLline"><a href="/medgen/66319" ref="tree=MeSH" title="MedGen record for Autosomal dominant primary microcephaly">Autosomal dominant primary microcephaly</a></span></li><li><span class="TLline"><a href="/medgen/777995" ref="tree=MeSH" title="MedGen record for Autosomal recessive primary microcephaly">Autosomal recessive primary microcephaly</a></span></li><li><span class="TLline"><a href="/medgen/901502" ref="tree=MeSH" title="MedGen record for Porencephaly">Porencephaly</a></span></li><li><span class="TLline"><a href="/medgen/383046" ref="tree=MeSH" title="MedGen record for Primary microcephaly">Primary microcephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82708" ref="tree=MeSH" title="MedGen record for Leprechaunism syndrome">Leprechaunism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/395827" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome">Loeys-Dietz syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/462437" ref="tree=MeSH" title="MedGen record for Aneurysm-osteoarthritis syndrome">Aneurysm-osteoarthritis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1646567" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 1">Loeys-Dietz syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/382398" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 2">Loeys-Dietz syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/766676" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 4">Loeys-Dietz syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/395828" ref="tree=MeSH" title="MedGen record for Loeys-Dietz Syndrome Type 1">Loeys-Dietz Syndrome Type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/101209" ref="tree=MeSH" title="MedGen record for Maxillofacial Abnormalities">Maxillofacial Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/488372" ref="tree=MeSH" title="MedGen record for Dentofacial Deformities">Dentofacial Deformities</a></span></li><li><span class="TLline"><a href="/medgen/40219" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia of jaw">Fibrous dysplasia of jaw</a></span></li><li><span class="TLline"><a href="/medgen/9591" ref="tree=MeSH" title="MedGen record for Jaw Abnormalities">Jaw Abnormalities</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65141" ref="tree=MeSH" title="MedGen record for Megalencephaly">Megalencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/164085" ref="tree=MeSH" title="MedGen record for Acquired Macrocephaly">Acquired Macrocephaly</a></span></li><li><span class="TLline"><a href="/medgen/1815079" ref="tree=MeSH" title="MedGen record for Dysplastic megalencephaly">Dysplastic megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/140910" ref="tree=MeSH" title="MedGen record for Hemimegalencephaly">Hemimegalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/977842" ref="tree=MeSH" title="MedGen record for Isolated megalencephaly">Isolated megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/322956" ref="tree=MeSH" title="MedGen record for Macrocephaly at birth">Macrocephaly at birth</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18073" ref="tree=MeSH" title="MedGen record for Noonan syndrome">Noonan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1638960" ref="tree=MeSH" title="MedGen record for Noonan syndrome 1">Noonan syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/344290" ref="tree=MeSH" title="MedGen record for Noonan syndrome 2">Noonan syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/349931" ref="tree=MeSH" title="MedGen record for Noonan syndrome 3">Noonan syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/339908" ref="tree=MeSH" title="MedGen record for Noonan syndrome 4">Noonan syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/370589" ref="tree=MeSH" title="MedGen record for Noonan syndrome 5">Noonan syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/413028" ref="tree=MeSH" title="MedGen record for Noonan syndrome 6">Noonan syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/462320" ref="tree=MeSH" title="MedGen record for Noonan syndrome 7">Noonan syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/815563" ref="tree=MeSH" title="MedGen record for Noonan syndrome 8">Noonan syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/896352" ref="tree=MeSH" title="MedGen record for Noonan syndrome 9">Noonan syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/902892" ref="tree=MeSH" title="MedGen record for Noonan syndrome 10">Noonan syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/1681177" ref="tree=MeSH" title="MedGen record for Noonan syndrome 11">Noonan syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/1684730" ref="tree=MeSH" title="MedGen record for Noonan syndrome 12">Noonan syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/1761918" ref="tree=MeSH" title="MedGen record for Noonan syndrome 13">Noonan syndrome 13</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104494" ref="tree=MeSH" title="MedGen record for Noonan syndrome with multiple lentigines">Noonan syndrome with multiple lentigines</a></span><ul><li><span class="TLline"><a href="/medgen/1631694" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 1">LEOPARD syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/370588" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 2">LEOPARD syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/462321" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 3">LEOPARD syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14518" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome">Orofaciodigital syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/10077" ref="tree=MeSH" title="MedGen record for Mohr syndrome">Mohr syndrome</a></span></li><li><span class="TLline"><a href="/medgen/993107" ref="tree=MeSH" title="MedGen record for Oral-facial-digital syndrome with short stature and brachymesophalangy">Oral-facial-digital syndrome with short stature and brachymesophalangy</a></span></li><li><span class="TLline"><a href="/medgen/96069" ref="tree=MeSH" title="MedGen record for Orofacial-digital syndrome III">Orofacial-digital syndrome III</a></span></li><li><span class="TLline"><a href="/medgen/98358" ref="tree=MeSH" title="MedGen record for Orofacial-digital syndrome IV">Orofacial-digital syndrome IV</a></span></li><li><span class="TLline"><a href="/medgen/307142" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome I">Orofaciodigital syndrome I</a></span></li><li><span class="TLline"><a href="/medgen/162908" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome IX">Orofaciodigital syndrome IX</a></span></li><li><span class="TLline"><a href="/medgen/411200" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 6">Orofaciodigital syndrome type 6</a></span></li><li><span class="TLline"><a href="/medgen/420948" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 12">Orofaciodigital syndrome type 12</a></span></li><li><span class="TLline"><a href="/medgen/420203" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 13">Orofaciodigital syndrome type 13</a></span></li><li><span class="TLline"><a href="/medgen/1635470" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 14">Orofaciodigital syndrome type 14</a></span></li><li><span class="TLline"><a href="/medgen/358131" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome V">Orofaciodigital syndrome V</a></span></li><li><span class="TLline"><a href="/medgen/208667" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome VIII">Orofaciodigital syndrome VIII</a></span></li><li><span class="TLline"><a href="/medgen/322280" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome X">Orofaciodigital syndrome X</a></span></li><li><span class="TLline"><a href="/medgen/416694" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome XI">Orofaciodigital syndrome XI</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78562" ref="tree=MeSH" title="MedGen record for Plagiocephaly">Plagiocephaly</a></span><ul><li><span class="TLline"><a href="/medgen/868997" ref="tree=MeSH" title="MedGen record for Anterior plagiocephaly">Anterior plagiocephaly</a></span></li><li><span class="TLline"><a href="/medgen/892298" ref="tree=MeSH" title="MedGen record for Posterior plagiocephaly">Posterior plagiocephaly</a></span></li><li><span class="TLline"><a href="/medgen/260663" ref="tree=MeSH" title="MedGen record for Postural plagiocephaly">Postural plagiocephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45959" ref="tree=MeSH" title="MedGen record for Platybasia">Platybasia</a></span></li><li><span class="TLline"><a href="/medgen/48517" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome">Rubinstein-Taybi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/350477" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to 16p13.3 microdeletion">Rubinstein-Taybi syndrome due to 16p13.3 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1639327" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to CREBBP mutations">Rubinstein-Taybi syndrome due to CREBBP mutations</a></span></li><li><span class="TLline"><a href="/medgen/462291" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency">Rubinstein-Taybi syndrome due to EP300 haploinsufficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104492" ref="tree=MeSH" title="MedGen record for Russell-Silver syndrome">Russell-Silver syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1718472" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 1">Silver-Russell syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1714148" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 2">Silver-russell syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/894912" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 3">Silver-Russell syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712866" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 4">Silver-russell syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1713787" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 5">Silver-Russell syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1826103" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 11p15 microduplication">Silver-Russell syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826059" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 7p11.2p13 microduplication">Silver-Russell syndrome due to 7p11.2p13 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1843388" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to a point mutation">Silver-Russell syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826102" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to an imprinting defect of 11p15">Silver-Russell syndrome due to an imprinting defect of 11p15</a></span></li><li><span class="TLline"><a href="/medgen/1826074" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7</a></span></li><li><span class="TLline"><a href="/medgen/1843295" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1640560" ref="tree=MeSH" title="MedGen record for Developmental dysplasia of the hip">Developmental dysplasia of the hip</a></span></li><li><span class="TLline"><a href="/medgen/481650" ref="tree=MeSH" title="MedGen record for Developmental Hip Dysplasia">Developmental Hip Dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/82721" ref="tree=MeSH" title="MedGen record for Gastroschisis">Gastroschisis</a></span></li><li><span class="TLline"><a href="/medgen/182961" ref="tree=MeSH" title="MedGen record for Hajdu-Cheney syndrome">Hajdu-Cheney syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9645" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome">Klippel-Feil syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/980916" ref="tree=MeSH" title="MedGen record for Isolated Klippel-Feil syndrome">Isolated Klippel-Feil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/894399" ref="tree=MeSH" title="MedGen record for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome">Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/396196" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 1, autosomal dominant">Klippel-Feil syndrome 1, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/395201" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 2, autosomal recessive">Klippel-Feil syndrome 2, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/462317" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 3, autosomal dominant">Klippel-Feil syndrome 3, autosomal dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57643" ref="tree=MeSH" title="MedGen record for Pectus carinatum">Pectus carinatum</a></span><ul><li><span class="TLline"><a href="/medgen/351219" ref="tree=MeSH" title="MedGen record for Superior pectus carinatum">Superior pectus carinatum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11689" ref="tree=MeSH" title="MedGen record for Synostosis">Synostosis</a></span><ul><li><span class="TLline"><a href="/medgen/389937" ref="tree=MeSH" title="MedGen record for Antley-Bixler Syndrome Phenotype">Antley-Bixler Syndrome Phenotype</a></span></li><li><span class="TLline"><a href="/medgen/539393" ref="tree=MeSH" title="MedGen record for Tarsal synostosis">Tarsal synostosis</a></span><ul><li><span class="TLline"><a href="/medgen/870288" ref="tree=MeSH" title="MedGen record for Calcaneonavicular fusion">Calcaneonavicular fusion</a></span></li><li><span class="TLline"><a href="/medgen/870676" ref="tree=MeSH" title="MedGen record for Coalescence of tarsal bones">Coalescence of tarsal bones</a></span></li><li><span class="TLline"><a href="/medgen/336197" ref="tree=MeSH" title="MedGen record for Partial fusion of tarsals">Partial fusion of tarsals</a></span></li><li><span class="TLline"><a href="/medgen/870701" ref="tree=MeSH" title="MedGen record for Talocalcaneal synostosis">Talocalcaneal synostosis</a></span></li><li><span class="TLline"><a href="/medgen/867755" ref="tree=MeSH" title="MedGen record for Tarsometatarsal synostosis">Tarsometatarsal synostosis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/137939" ref="tree=MeSH" title="MedGen record for Tracheobronchomalacia">Tracheobronchomalacia</a></span><ul><li><span class="TLline"><a href="/medgen/82679" ref="tree=MeSH" title="MedGen record for Bronchomalacia">Bronchomalacia</a></span></li><li><span class="TLline"><a href="/medgen/1814106" ref="tree=MeSH" title="MedGen record for Cartilaginous tracheobronchomalacia">Cartilaginous tracheobronchomalacia</a></span></li><li><span class="TLline"><a href="/medgen/1813883" ref="tree=MeSH" title="MedGen record for Excessive dynamic airway collapse">Excessive dynamic airway collapse</a></span></li><li><span class="TLline"><a href="/medgen/215296" ref="tree=MeSH" title="MedGen record for Tracheomalacia">Tracheomalacia</a></span><ul><li><span class="TLline"><a href="/medgen/107947" ref="tree=MeSH" title="MedGen record for Laryngotracheomalacia">Laryngotracheomalacia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_105">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573374">Treacher Collins Syndrome: Genetics, Clinical Features and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marszałek-Kruk BA,
|
||
Wójcicki P,
|
||
Dowgierd K,
|
||
Śmigiel R</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Sep 9;12(9)
|
||
doi: 10.3390/genes12091392.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573374" target="_blank">34573374</a><a href="/pmc/articles/PMC8470852" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28253207">Prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chueh J</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Obstet Gynecol</span>
|
||
2017 Apr;29(2):71-72.
|
||
doi: 10.1097/GCO.0000000000000352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28253207" target="_blank">28253207</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8480709">Facial keys to orthodontic diagnosis and treatment planning--Part II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnett GW,
|
||
Bergman RT</span><br />
|
||
<span class="medgenPMjournal">Am J Orthod Dentofacial Orthop</span>
|
||
1993 May;103(5):395-411.
|
||
doi: 10.1016/s0889-5406(05)81791-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8480709" target="_blank">8480709</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20anomaly%20of%20musculoskeletal%20system)%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 (3566)</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/34750959">A new case of Turnpenny-Fry syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ercoskun P,
|
||
Yuce Kahraman C,
|
||
Adanur Saglam K,
|
||
Kanjee M,
|
||
Tatar A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Feb;188(2):688-691.
|
||
Epub 2021 Nov 9
|
||
doi: 10.1002/ajmg.a.62560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34750959" target="_blank">34750959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33069285">Overgrowth syndromes and new therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eng W,
|
||
Hammill AM,
|
||
Adams DM</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2020 Oct;29(5):150974.
|
||
Epub 2020 Sep 23
|
||
doi: 10.1016/j.sempedsurg.2020.150974.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33069285" target="_blank">33069285</a><a href="/pmc/articles/PMC11126324" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29620724">Expanding the phenome and variome of skeletal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maddirevula S,
|
||
Alsahli S,
|
||
Alhabeeb L,
|
||
Patel N,
|
||
Alzahrani F,
|
||
Shamseldin HE,
|
||
Anazi S,
|
||
Ewida N,
|
||
Alsaif HS,
|
||
Mohamed JY,
|
||
Alazami AM,
|
||
Ibrahim N,
|
||
Abdulwahab F,
|
||
Hashem M,
|
||
Abouelhoda M,
|
||
Monies D,
|
||
Al Tassan N,
|
||
Alshammari M,
|
||
Alsagheir A,
|
||
Seidahmed MZ,
|
||
Sogati S,
|
||
Aglan MS,
|
||
Hamad MH,
|
||
Salih MA,
|
||
Hamed AA,
|
||
Alhashmi N,
|
||
Nabil A,
|
||
Alfadli F,
|
||
Abdel-Salam GMH,
|
||
Alkuraya H,
|
||
Peitee WO,
|
||
Keng WT,
|
||
Qasem A,
|
||
Mushiba AM,
|
||
Zaki MS,
|
||
Fassad MR,
|
||
Alfadhel M,
|
||
Alexander S,
|
||
Sabr Y,
|
||
Temtamy S,
|
||
Ekbote AV,
|
||
Ismail S,
|
||
Hosny GA,
|
||
Otaify GA,
|
||
Amr K,
|
||
Al Tala S,
|
||
Khan AO,
|
||
Rizk T,
|
||
Alaqeel A,
|
||
Alsiddiky A,
|
||
Singh A,
|
||
Kapoor S,
|
||
Alhashem A,
|
||
Faqeih E,
|
||
Shaheen R,
|
||
Alkuraya FS</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2018 Dec;20(12):1609-1616.
|
||
Epub 2018 Apr 5
|
||
doi: 10.1038/gim.2018.50.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29620724" target="_blank">29620724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21276899">Index finger pollicization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taghinia AH,
|
||
Upton J</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2011 Feb;36(2):333-9.
|
||
doi: 10.1016/j.jhsa.2010.11.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21276899" target="_blank">21276899</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20anomaly%20of%20musculoskeletal%20system%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 (29611)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33069285">Overgrowth syndromes and new therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eng W,
|
||
Hammill AM,
|
||
Adams DM</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2020 Oct;29(5):150974.
|
||
Epub 2020 Sep 23
|
||
doi: 10.1016/j.sempedsurg.2020.150974.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33069285" target="_blank">33069285</a><a href="/pmc/articles/PMC11126324" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29322497">Genetics of patella hypoplasia/agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanlerberghe C,
|
||
Boutry N,
|
||
Petit F</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2018 Jul;94(1):43-53.
|
||
Epub 2018 Apr 11
|
||
doi: 10.1111/cge.13209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29322497" target="_blank">29322497</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28363367">Straight Back Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wright CD</span><br />
|
||
<span class="medgenPMjournal">Thorac Surg Clin</span>
|
||
2017 May;27(2):133-137.
|
||
doi: 10.1016/j.thorsurg.2017.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28363367" target="_blank">28363367</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25543163">Nager syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lansinger Y,
|
||
Rayan G</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2015 Apr;40(4):851-4.
|
||
Epub 2014 Dec 24
|
||
doi: 10.1016/j.jhsa.2014.10.064.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25543163" target="_blank">25543163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24738724">Skin dimples.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar A,
|
||
Kanojia RK,
|
||
Saili A</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2014 Jul;53(7):789-97.
|
||
Epub 2014 Apr 16
|
||
doi: 10.1111/ijd.12376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24738724" target="_blank">24738724</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20anomaly%20of%20musculoskeletal%20system%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 (25788)</a></div><h3 class="subhead">Therapy</h3>
|
||
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<span class="bold">PMID: </span><a href="/pubmed/37777201" target="_blank">37777201</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31880623">Ultrasonography in the Diagnosis and Management of Developmental Dysplasia of the Hip.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26472584">Classifications in Brief: Johnson and Strom Classification of Adult-acquired Flatfoot Deformity.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20anomaly%20of%20musculoskeletal%20system%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 (16731)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/35871320">The effects of short foot exercises to treat flat foot deformity: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hara S,
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Kitano M,
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Kudo S</span><br />
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<span class="medgenPMjournal">J Back Musculoskelet Rehabil</span>
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doi: 10.3233/BMR-210374.
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<span class="bold">PMID: </span><a href="/pubmed/35871320" target="_blank">35871320</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/35662564">Clinical features and complications of Loeys-Dietz syndrome: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gouda P,
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Kay R,
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Habib M,
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Aziz A,
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Aziza E,
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Welsh R</span><br />
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<span class="medgenPMjournal">Int J Cardiol</span>
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2022 Sep 1;362:158-167.
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Epub 2022 Jun 1
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doi: 10.1016/j.ijcard.2022.05.065.
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<span class="bold">PMID: </span><a href="/pubmed/35662564" target="_blank">35662564</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/33899664">Gastroschisis: a systematic review of diagnosis, prognosis and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ferreira RG,
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Mendonça CR,
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Gonçalves Ramos LL,
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de Abreu Tacon FS,
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Naves do Amaral W,
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Ruano R</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/33899664" target="_blank">33899664</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34844639">Evidence for foot orthoses for adults with flatfoot: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Herchenröder M,
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Wilfling D,
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Steinhäuser J</span><br />
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<span class="medgenPMjournal">J Foot Ankle Res</span>
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doi: 10.1186/s13047-021-00499-z.
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<span class="bold">PMID: </span><a href="/pubmed/34844639" target="_blank">34844639</a><a href="/pmc/articles/PMC8628393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32371428">Tummy Time and Infant Health Outcomes: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hewitt L,
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Kerr E,
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Stanley RM,
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Okely AD</span><br />
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Epub 2020 May 5
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<span class="bold">PMID: </span><a href="/pubmed/32371428" target="_blank">32371428</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20anomaly%20of%20musculoskeletal%20system%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 (962)</a></div></div>
|
||
</div>
|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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