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<!--
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UID=10495
|
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ConceptID=C0029422
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Osteochondrodysplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10495</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.">C0029422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Osteochondrodysplasias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Osteochondrodysplasia syndrome (105985007)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005516" target="_blank">MONDO:0005516</a></td></tr>
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<div class="portlet_content ln">A term referring to disorders characterized by abnormalities in the development of bones and cartilage. [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 mgSection" id="ID_118">
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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="TLline">Osteochondrodysplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/6471" ref="tree=MeSH" title="MedGen record for Musculoskeletal system disorder">Musculoskeletal system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/14182" ref="tree=MeSH" title="MedGen record for Disorder of bone">Disorder of bone</a></span><ul><li><span class="TLline"><a href="/medgen/2309" ref="tree=MeSH" title="MedGen record for Bone development disease">Bone development disease</a></span><ul><li><span class="matched_ds">Osteochondrodysplasia</span><ul><li><span class="TLline"><a href="/medgen/1289" ref="tree=MeSH" title="MedGen record for Achondroplasia">Achondroplasia</a></span><ul><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/395189" ref="tree=MeSH" title="MedGen record for Chondrodysplasia Blomstrand type">Chondrodysplasia Blomstrand type</a></span></li><li><span class="TLline"><a href="/medgen/3052" ref="tree=MeSH" title="MedGen record for Chondrodysplasia punctata">Chondrodysplasia punctata</a></span><ul><li><span class="TLline"><a href="/medgen/224886" ref="tree=MeSH" title="MedGen record for Astley-Kendall dysplasia">Astley-Kendall dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/82697" ref="tree=MeSH" title="MedGen record for Child syndrome">Child syndrome</a></span></li><li><span class="TLline"><a href="/medgen/418969" ref="tree=MeSH" title="MedGen record for Greenberg dysplasia">Greenberg dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/383722" ref="tree=MeSH" title="MedGen record for Keutel syndrome">Keutel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/79471" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata">Rhizomelic chondrodysplasia punctata</a></span><ul><li><span class="TLline"><a href="/medgen/347072" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 1">Rhizomelic chondrodysplasia punctata type 1</a></span></li><li><span class="TLline"><a href="/medgen/341734" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 2">Rhizomelic chondrodysplasia punctata type 2</a></span></li><li><span class="TLline"><a href="/medgen/374012" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 3">Rhizomelic chondrodysplasia punctata type 3</a></span></li><li><span class="TLline"><a href="/medgen/900333" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 5">Rhizomelic chondrodysplasia punctata type 5</a></span></li></ul></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/98479" ref="tree=MeSH" title="MedGen record for Desbuquois syndrome">Desbuquois syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4268" ref="tree=MeSH" title="MedGen record for Diaphyseal dysplasia">Diaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/8584" ref="tree=MeSH" title="MedGen record for Ellis-van Creveld syndrome">Ellis-van Creveld syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41775" ref="tree=MeSH" title="MedGen record for Enchondromatosis">Enchondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/57704" ref="tree=MeSH" title="MedGen record for Epiphysiolysis of the hip">Epiphysiolysis of the hip</a></span></li><li><span class="TLline"><a href="/medgen/858765" ref="tree=MeSH" title="MedGen record for FGFR3 Chondrodysplasia">FGFR3 Chondrodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120444" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia">Fibrous dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1639270" ref="tree=MeSH" title="MedGen record for Craniofacial Fibrous Dysplasia">Craniofacial Fibrous Dysplasia</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/42020" ref="tree=MeSH" title="MedGen record for Monostotic fibrous dysplasia">Monostotic fibrous dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/5180" ref="tree=MeSH" title="MedGen record for Polyostotic fibrous dysplasia of bone">Polyostotic fibrous dysplasia of bone</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9367" ref="tree=MeSH" title="MedGen record for Hyperostosis interna frontalis">Hyperostosis interna frontalis</a></span></li><li><span class="TLline"><a href="/medgen/98376" ref="tree=MeSH" title="MedGen record for Hypochondroplasia">Hypochondroplasia</a></span></li><li><span class="TLline"><a href="/medgen/10502" ref="tree=MeSH" title="MedGen record for Increased bone mineral density">Increased bone mineral density</a></span><ul><li><span class="TLline"><a href="/medgen/870941" ref="tree=MeSH" title="MedGen record for Bone-in-a-bone appearance of carpal bones">Bone-in-a-bone appearance of carpal bones</a></span></li><li><span class="TLline"><a href="/medgen/767583" ref="tree=MeSH" title="MedGen record for Clavicular sclerosis">Clavicular sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/870710" ref="tree=MeSH" title="MedGen record for Cortical sclerosis">Cortical sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/1864368" ref="tree=MeSH" title="MedGen record for Femoral osteosclerosis">Femoral osteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/375162" ref="tree=MeSH" title="MedGen record for Generalized osteosclerosis">Generalized osteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/870697" ref="tree=MeSH" title="MedGen record for Increased bone density with cystic changes">Increased bone density with cystic changes</a></span></li><li><span class="TLline"><a href="/medgen/5694" ref="tree=MeSH" title="MedGen record for Increased skull ossification">Increased skull ossification</a></span><ul><li><span class="TLline"><a href="/medgen/343213" ref="tree=MeSH" title="MedGen record for Dense calvaria">Dense calvaria</a></span></li><li><span class="TLline"><a href="/medgen/866532" ref="tree=MeSH" title="MedGen record for Increased spinal bone density">Increased spinal bone density</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870114" ref="tree=MeSH" title="MedGen record for Ivory epiphyses of the metacarpals">Ivory epiphyses of the metacarpals</a></span></li><li><span class="TLline"><a href="/medgen/326730" ref="tree=MeSH" title="MedGen record for Metacarpal diaphyseal endosteal sclerosis">Metacarpal diaphyseal endosteal sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/18223" ref="tree=MeSH" title="MedGen record for Osteopetrosis">Osteopetrosis</a></span><ul><li><span class="TLline"><a href="/medgen/930809" ref="tree=MeSH" title="MedGen record for 12q14 microdeletion syndrome">12q14 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929406" ref="tree=MeSH" title="MedGen record for Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome">Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1378401" ref="tree=MeSH" title="MedGen record for Autosomal dominant osteopetrosis">Autosomal dominant osteopetrosis</a></span></li><li><span class="TLline"><a href="/medgen/335932" ref="tree=MeSH" title="MedGen record for Autosomal dominant osteopetrosis 1">Autosomal dominant osteopetrosis 1</a></span></li><li><span class="TLline"><a href="/medgen/465707" ref="tree=MeSH" title="MedGen record for Autosomal dominant osteopetrosis 2">Autosomal dominant osteopetrosis 2</a></span></li><li><span class="TLline"><a href="/medgen/1385510" ref="tree=MeSH" title="MedGen record for Autosomal recessive osteopetrosis">Autosomal recessive osteopetrosis</a></span></li><li><span class="TLline"><a href="/medgen/409754" ref="tree=MeSH" title="MedGen record for Autosomal recessive osteopetrosis 6">Autosomal recessive osteopetrosis 6</a></span></li><li><span class="TLline"><a href="/medgen/436770" ref="tree=MeSH" title="MedGen record for Autosomal recessive osteopetrosis 7">Autosomal recessive osteopetrosis 7</a></span></li><li><span class="TLline"><a href="/medgen/98482" ref="tree=MeSH" title="MedGen record for Axial osteosclerosis">Axial osteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/934592" ref="tree=MeSH" title="MedGen record for Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness">Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness</a></span></li><li><span class="TLline"><a href="/medgen/120545" ref="tree=MeSH" title="MedGen record for Dermatofibrosis lenticularis disseminata">Dermatofibrosis lenticularis disseminata</a></span></li><li><span class="TLline"><a href="/medgen/98150" ref="tree=MeSH" title="MedGen record for Dysosteosclerosis">Dysosteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/1805057" ref="tree=MeSH" title="MedGen record for Early-onset calcifying leukoencephalopathy-skeletal dysplasia">Early-onset calcifying leukoencephalopathy-skeletal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/373924" ref="tree=MeSH" title="MedGen record for Infantile osteopetrosis with neuroaxonal dysplasia">Infantile osteopetrosis with neuroaxonal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/318940" ref="tree=MeSH" title="MedGen record for Isolated osteopoikilosis">Isolated osteopoikilosis</a></span></li><li><span class="TLline"><a href="/medgen/411605" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency 3">Leukocyte adhesion deficiency 3</a></span></li><li><span class="TLline"><a href="/medgen/460981" ref="tree=MeSH" title="MedGen record for Melorheostosis">Melorheostosis</a></span></li><li><span class="TLline"><a href="/medgen/461045" ref="tree=MeSH" title="MedGen record for Melorheostosis with osteopoikilosis">Melorheostosis with osteopoikilosis</a></span></li><li><span class="TLline"><a href="/medgen/1373678" ref="tree=MeSH" title="MedGen record for Osteoclast-Rich Osteopetrosis">Osteoclast-Rich Osteopetrosis</a></span></li><li><span class="TLline"><a href="/medgen/96590" ref="tree=MeSH" title="MedGen record for Osteopathia striata with cranial sclerosis">Osteopathia striata with cranial sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/91042" ref="tree=MeSH" title="MedGen record for Osteopetrosis with renal tubular acidosis">Osteopetrosis with renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/767579" ref="tree=MeSH" title="MedGen record for Osteosclerotic metaphyseal dysplasia">Osteosclerotic metaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/116061" ref="tree=MeSH" title="MedGen record for Pyknodysostosis">Pyknodysostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45251" ref="tree=MeSH" title="MedGen record for Osteopoikilosis">Osteopoikilosis</a></span></li><li><span class="TLline"><a href="/medgen/383784" ref="tree=MeSH" title="MedGen record for Patchy osteosclerosis">Patchy osteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/866585" ref="tree=MeSH" title="MedGen record for Sclerosis of foot bone">Sclerosis of foot bone</a></span><ul><li><span class="TLline"><a href="/medgen/327100" ref="tree=MeSH" title="MedGen record for Metatarsal diaphyseal endosteal sclerosis">Metatarsal diaphyseal endosteal sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/866586" ref="tree=MeSH" title="MedGen record for Sclerosis of toe phalanx">Sclerosis of toe phalanx</a></span></li><li><span class="TLline"><a href="/medgen/1371353" ref="tree=MeSH" title="MedGen record for Tarsal sclerosis">Tarsal sclerosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867321" ref="tree=MeSH" title="MedGen record for Sclerosis of hand bone">Sclerosis of hand bone</a></span><ul><li><span class="TLline"><a href="/medgen/870911" ref="tree=MeSH" title="MedGen record for Irregular sclerosis of hand bones">Irregular sclerosis of hand bones</a></span></li><li><span class="TLline"><a href="/medgen/1387787" ref="tree=MeSH" title="MedGen record for Sclerosis of the carpal bones">Sclerosis of the carpal bones</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/377095" ref="tree=MeSH" title="MedGen record for Sclerosis of skull base">Sclerosis of skull base</a></span><ul><li><span class="TLline"><a href="/medgen/331983" ref="tree=MeSH" title="MedGen record for Progressive sclerosis of skull base">Progressive sclerosis of skull base</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/336559" ref="tree=MeSH" title="MedGen record for Sclerotic scapulae">Sclerotic scapulae</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/43781" ref="tree=MeSH" title="MedGen record for Infantile cortical hyperostosis">Infantile cortical hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/412531" ref="tree=MeSH" title="MedGen record for Kashin-Beck disease">Kashin-Beck disease</a></span></li><li><span class="TLline"><a href="/medgen/6009" ref="tree=MeSH" title="MedGen record for Langer-Giedion syndrome">Langer-Giedion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/593147" ref="tree=MeSH" title="MedGen record for Mesomelic dysplasia">Mesomelic dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/96585" ref="tree=MeSH" title="MedGen record for Langer mesomelic dysplasia syndrome">Langer mesomelic dysplasia syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10496" ref="tree=MeSH" title="MedGen record for Osteochondroma">Osteochondroma</a></span><ul><li><span class="TLline"><a href="/medgen/64625" ref="tree=MeSH" title="MedGen record for Multiple Osteochondromas">Multiple Osteochondromas</a></span><ul><li><span class="TLline"><a href="/medgen/4612" ref="tree=MeSH" title="MedGen record for Multiple congenital exostosis">Multiple congenital exostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/328039" ref="tree=MeSH" title="MedGen record for Solitary Osteochondroma">Solitary Osteochondroma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45246" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta">Osteogenesis imperfecta</a></span><ul><li><span class="TLline"><a href="/medgen/419332" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 5">Osteogenesis imperfecta type 5</a></span></li><li><span class="TLline"><a href="/medgen/481194" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 6">Osteogenesis imperfecta type 6</a></span></li><li><span class="TLline"><a href="/medgen/343981" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 7">Osteogenesis imperfecta type 7</a></span></li><li><span class="TLline"><a href="/medgen/410075" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 8">Osteogenesis imperfecta type 8</a></span></li><li><span class="TLline"><a href="/medgen/376720" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 9">Osteogenesis imperfecta type 9</a></span></li><li><span class="TLline"><a href="/medgen/462561" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 10">Osteogenesis imperfecta type 10</a></span></li><li><span class="TLline"><a href="/medgen/462568" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 11">Osteogenesis imperfecta type 11</a></span></li><li><span class="TLline"><a href="/medgen/462783" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 12">Osteogenesis imperfecta type 12</a></span></li><li><span class="TLline"><a href="/medgen/766801" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 13">Osteogenesis imperfecta type 13</a></span></li><li><span class="TLline"><a href="/medgen/767342" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 14">Osteogenesis imperfecta type 14</a></span></li><li><span class="TLline"><a href="/medgen/815174" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 15">Osteogenesis imperfecta type 15</a></span></li><li><span class="TLline"><a href="/medgen/864047" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 16">Osteogenesis imperfecta type 16</a></span></li><li><span class="TLline"><a href="/medgen/903845" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 17">Osteogenesis imperfecta type 17</a></span></li><li><span class="TLline"><a href="/medgen/9799" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type I">Osteogenesis imperfecta type I</a></span></li><li><span class="TLline"><a href="/medgen/78664" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type III">Osteogenesis imperfecta type III</a></span></li><li><span class="TLline"><a href="/medgen/78665" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta with normal sclerae, dominant form">Osteogenesis imperfecta with normal sclerae, dominant form</a></span></li><li><span class="TLline"><a href="/medgen/1801631" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, IIA 22">Osteogenesis imperfecta, IIA 22</a></span></li><li><span class="TLline"><a href="/medgen/75673" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, perinatal lethal">Osteogenesis imperfecta, perinatal lethal</a></span></li><li><span class="TLline"><a href="/medgen/1635201" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 18">Osteogenesis imperfecta, type 18</a></span></li><li><span class="TLline"><a href="/medgen/1648353" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 19">Osteogenesis imperfecta, type 19</a></span></li><li><span class="TLline"><a href="/medgen/1684751" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 20">Osteogenesis imperfecta, type 20</a></span></li><li><span class="TLline"><a href="/medgen/1723598" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 21">Osteogenesis imperfecta, type 21</a></span></li><li><span class="TLline"><a href="/medgen/1846121" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 23">Osteogenesis imperfecta, type 23</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120490" ref="tree=MeSH" title="MedGen record for SAPHO syndrome">SAPHO syndrome</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><ul><li><span class="TLline"><a href="/medgen/19860" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 3">Asphyxiating thoracic dystrophy 3</a></span></li><li><span class="TLline"><a href="/medgen/1641011" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia">Cranioectodermal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/96586" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 1">Cranioectodermal dysplasia 1</a></span></li><li><span class="TLline"><a href="/medgen/462224" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 2">Cranioectodermal dysplasia 2</a></span></li><li><span class="TLline"><a href="/medgen/481437" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 3">Cranioectodermal dysplasia 3</a></span></li><li><span class="TLline"><a href="/medgen/482246" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 4">Cranioectodermal dysplasia 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78548" ref="tree=MeSH" title="MedGen record for Jeune thoracic dystrophy">Jeune thoracic dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1648057" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 1">Asphyxiating thoracic dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/370804" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 2">Asphyxiating thoracic dystrophy 2</a></span></li><li><span class="TLline"><a href="/medgen/462535" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 4">Asphyxiating thoracic dystrophy 4</a></span></li><li><span class="TLline"><a href="/medgen/482228" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 5">Asphyxiating thoracic dystrophy 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1371401" ref="tree=MeSH" title="MedGen record for Joubert syndrome with Jeune asphyxiating thoracic dystrophy">Joubert syndrome with Jeune asphyxiating thoracic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/988414" ref="tree=MeSH" title="MedGen record for Short rib-polydactyly syndrome, Majewski type">Short rib-polydactyly syndrome, Majewski type</a></span><ul><li><span class="TLline"><a href="/medgen/44252" ref="tree=MeSH" title="MedGen record for Short-rib thoracic dysplasia 6 with or without polydactyly">Short-rib thoracic dysplasia 6 with or without polydactyly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/481422" ref="tree=MeSH" title="MedGen record for Short-rib thoracic dysplasia 7 with or without polydactyly">Short-rib thoracic dysplasia 7 with or without polydactyly</a></span></li><li><span class="TLline"><a href="/medgen/96578" ref="tree=MeSH" title="MedGen record for Type IV short rib polydactyly syndrome">Type IV short rib polydactyly syndrome</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/35808914">Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sarac Sivrikoz T,
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Kalayci T,
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Senturk L,
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Karaman V,
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Kalelioglu IH,
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Has R,
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Kayserili H,
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Uyguner ZO,
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Nishimura G,
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Altunoglu U</span><br />
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<span class="medgenPMjournal">Prenat Diagn</span>
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2022 Nov;42(12):1503-1510.
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Epub 2022 Jul 20
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doi: 10.1002/pd.6208.
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<span class="bold">PMID: </span><a href="/pubmed/35808914" target="_blank">35808914</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28180199">Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Berceanu C,
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Gheonea IA,
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Vlădăreanu S,
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Cîrstoiu MM,
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Vlădăreanu R,
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Mehedinţu C,
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Berceanu S,
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Ciortea R,
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Brătilă E</span><br />
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<span class="medgenPMjournal">Med Ultrason</span>
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2017 Jan 31;19(1):66-72.
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doi: 10.11152/mu-922.
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<span class="bold">PMID: </span><a href="/pubmed/28180199" target="_blank">28180199</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19306245">The hip in osteochondrodysplasias: general rules for diagnosis and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sheridan BD,
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Gargan MF,
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Monsell FP</span><br />
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<span class="medgenPMjournal">Hip Int</span>
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2009 Jan-Mar;19 Suppl 6:S26-34.
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doi: 10.1177/112070000901906s06.
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<span class="bold">PMID: </span><a href="/pubmed/19306245" target="_blank">19306245</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22osteochondrodysplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (8)</a></div></div>
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</div>
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<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>
|
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<div class="portlet mgSection" id="ID_103">
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<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/35907855">Natural history of Myhre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang DD,
|
||
Rio M,
|
||
Michot C,
|
||
Boddaert N,
|
||
Yacoub W,
|
||
Garcelon N,
|
||
Thierry B,
|
||
Bonnet D,
|
||
Rondeau S,
|
||
Herve D,
|
||
Guey S,
|
||
Angoulvant F,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Jul 30;17(1):304.
|
||
doi: 10.1186/s13023-022-02447-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35907855" target="_blank">35907855</a><a href="/pmc/articles/PMC9338657" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35311234">A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mäkitie RE,
|
||
Toiviainen-Salo S,
|
||
Kaitila I,
|
||
Mäkitie O</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:845889.
|
||
Epub 2022 Mar 3
|
||
doi: 10.3389/fendo.2022.845889.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35311234" target="_blank">35311234</a><a href="/pmc/articles/PMC8927981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32552261">Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darouich S,
|
||
Masmoudi A</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2022 Apr;41(2):179-197.
|
||
Epub 2020 Jun 18
|
||
doi: 10.1080/15513815.2020.1775735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32552261" target="_blank">32552261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29692401">A review of skeletal dysplasia research in India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uttarilli A,
|
||
Shah H,
|
||
Shukla A,
|
||
Girisha KM</span><br />
|
||
<span class="medgenPMjournal">J Postgrad Med</span>
|
||
2018 Apr-Jun;64(2):98-103.
|
||
doi: 10.4103/jpgm.JPGM_527_17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29692401" target="_blank">29692401</a><a href="/pmc/articles/PMC5954821" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22608503">Cantú syndrome is caused by mutations in ABCC9.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Bon BW,
|
||
Gilissen C,
|
||
Grange DK,
|
||
Hennekam RC,
|
||
Kayserili H,
|
||
Engels H,
|
||
Reutter H,
|
||
Ostergaard JR,
|
||
Morava E,
|
||
Tsiakas K,
|
||
Isidor B,
|
||
Le Merrer M,
|
||
Eser M,
|
||
Wieskamp N,
|
||
de Vries P,
|
||
Steehouwer M,
|
||
Veltman JA,
|
||
Robertson SP,
|
||
Brunner HG,
|
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de Vries BB,
|
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Hoischen A</span><br />
|
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<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2012 Jun 8;90(6):1094-101.
|
||
Epub 2012 May 17
|
||
doi: 10.1016/j.ajhg.2012.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22608503" target="_blank">22608503</a><a href="/pmc/articles/PMC3370286" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteochondrodysplasia%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 (46)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35466658">Pycnodysostosis; A Rare Disease Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aziz F,
|
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Farida F,
|
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Bashir N</span><br />
|
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<span class="medgenPMjournal">J Ayub Med Coll Abbottabad</span>
|
||
2022 Jan-Mar;34(1):216-219.
|
||
doi: 10.55519/JAMC-01-10336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35466658" target="_blank">35466658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32552261">Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darouich S,
|
||
Masmoudi A</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2022 Apr;41(2):179-197.
|
||
Epub 2020 Jun 18
|
||
doi: 10.1080/15513815.2020.1775735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32552261" target="_blank">32552261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31371639">Osteochondrodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu A,
|
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McEntee J</span><br />
|
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<span class="medgenPMjournal">Pediatr Rev</span>
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2019 Aug;40(8):435-438.
|
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doi: 10.1542/pir.2017-0340.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31371639" target="_blank">31371639</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20422326">Opsismodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lewis LE,
|
||
Ramesh Bhat Y,
|
||
Naik P,
|
||
Sethi K,
|
||
Girisha KM</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2010 May;77(5):567-8.
|
||
Epub 2010 Mar 19
|
||
doi: 10.1007/s12098-010-0043-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20422326" target="_blank">20422326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16525770">A guide to the recognition of skeletal disorders in the fetus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teele RL</span><br />
|
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<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2006 Jun;36(6):473-84.
|
||
Epub 2006 Mar 9
|
||
doi: 10.1007/s00247-005-0087-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16525770" target="_blank">16525770</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteochondrodysplasia%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 (87)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38511620">A further case of chondrodysplasia with growth failure occurring after hematopoietic stem cell transplantation (HSCT).</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kavanagh K,
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Coleman J,
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O'Connell SM,
|
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Fhoghlú CN,
|
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Moore DP,
|
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Brenner C,
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Lynch SA</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
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2024 Jul;194(7):e63603.
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Epub 2024 Mar 21
|
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doi: 10.1002/ajmg.a.63603.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38511620" target="_blank">38511620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18401562">Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Menezes AH</span><br />
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<span class="medgenPMjournal">Childs Nerv Syst</span>
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2008 Oct;24(10):1169-72.
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Epub 2008 Apr 10
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doi: 10.1007/s00381-008-0602-z.
|
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<span class="bold">PMID: </span><a href="/pubmed/18401562" target="_blank">18401562</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2293921">Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Vilarrubias JM,
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Ginebreda I,
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Jimeno E</span><br />
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<span class="medgenPMjournal">Clin Orthop Relat Res</span>
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1990 Jan;(250):143-9.
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<span class="bold">PMID: </span><a href="/pubmed/2293921" target="_blank">2293921</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/3240241">GH therapy in two patients with osteochondrodysplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cacciari E,
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Pirazzoli P,
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<span class="medgenPMjournal">Basic Life Sci</span>
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1988;48:129-33.
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<span class="bold">PMID: </span><a href="/pubmed/3240241" target="_blank">3240241</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/7137221">Chondrodystrophic myotonia (Schwartz-Jampel syndrome): report of a new case and follow-up of patients initially reported in 1969.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Edwards WC,
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<span class="medgenPMjournal">Am J Med Genet</span>
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteochondrodysplasia%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35311234">A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mäkitie RE,
|
||
Toiviainen-Salo S,
|
||
Kaitila I,
|
||
Mäkitie O</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:845889.
|
||
Epub 2022 Mar 3
|
||
doi: 10.3389/fendo.2022.845889.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35311234" target="_blank">35311234</a><a href="/pmc/articles/PMC8927981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35263396">Changes in skeletal dysplasia nosology.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jurcă MC,
|
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Jurcă SI,
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Mirodot F,
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Bercea B,
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Severin EM,
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Bembea M,
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Jurcă AD</span><br />
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<span class="medgenPMjournal">Rom J Morphol Embryol</span>
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2021 Jul-Sep;62(3):689-696.
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doi: 10.47162/RJME.62.3.05.
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<span class="bold">PMID: </span><a href="/pubmed/35263396" target="_blank">35263396</a><a href="/pmc/articles/PMC9019670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25931420">Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kurt-Sukur ED,
|
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Simsek-Kiper PO,
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Utine GE,
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Boduroglu K,
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Alanay Y</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2015 Sep;167A(9):2065-74.
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Epub 2015 Apr 30
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doi: 10.1002/ajmg.a.37122.
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<span class="bold">PMID: </span><a href="/pubmed/25931420" target="_blank">25931420</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/16525770">A guide to the recognition of skeletal disorders in the fetus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teele RL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2006 Jun;36(6):473-84.
|
||
Epub 2006 Mar 9
|
||
doi: 10.1007/s00247-005-0087-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16525770" target="_blank">16525770</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6376516">Pathogenic mechanisms in osteochondrodysplasias.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Stanescu V,
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Stanescu R,
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Maroteaux P</span><br />
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<span class="medgenPMjournal">J Bone Joint Surg Am</span>
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<span class="bold">PMID: </span><a href="/pubmed/6376516" target="_blank">6376516</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteochondrodysplasia%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 (45)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36370851">Transmembrane anterior posterior transformation 1 regulates BMP signaling and modulates the protein stability of SMAD1/5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang B,
|
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Zhao Q,
|
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Gong X,
|
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Wang C,
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Bai Y,
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Wang H,
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Zhou J,
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Rong X</span><br />
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<span class="medgenPMjournal">J Biol Chem</span>
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2022 Dec;298(12):102684.
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Epub 2022 Nov 9
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doi: 10.1016/j.jbc.2022.102684.
|
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<span class="bold">PMID: </span><a href="/pubmed/36370851" target="_blank">36370851</a><a href="/pmc/articles/PMC9763856" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28869677">Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ghosh S,
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Huber C,
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Siour Q,
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Sousa SB,
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Wright M,
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Cormier-Daire V,
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Erneux C</span><br />
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<span class="medgenPMjournal">Hum Mutat</span>
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2017 Dec;38(12):1731-1739.
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Epub 2017 Sep 21
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doi: 10.1002/humu.23321.
|
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<span class="bold">PMID: </span><a href="/pubmed/28869677" target="_blank">28869677</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24458798">Long-term observation of a patient with dominant omodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gordon BL,
|
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Champaigne NL,
|
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Rogers RC,
|
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Frias JL,
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Leroy JG</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2014 May;164A(5):1234-8.
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Epub 2014 Jan 23
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doi: 10.1002/ajmg.a.36408.
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<span class="bold">PMID: </span><a href="/pubmed/24458798" target="_blank">24458798</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20422326">Opsismodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lewis LE,
|
||
Ramesh Bhat Y,
|
||
Naik P,
|
||
Sethi K,
|
||
Girisha KM</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2010 May;77(5):567-8.
|
||
Epub 2010 Mar 19
|
||
doi: 10.1007/s12098-010-0043-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20422326" target="_blank">20422326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16525770">A guide to the recognition of skeletal disorders in the fetus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teele RL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2006 Jun;36(6):473-84.
|
||
Epub 2006 Mar 9
|
||
doi: 10.1007/s00247-005-0087-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16525770" target="_blank">16525770</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteochondrodysplasia%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 (49)</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/21728924">Measures of self-care independence for children with osteochondrodysplasia: a clinimetric review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ireland P,
|
||
Johnston LM</span><br />
|
||
<span class="medgenPMjournal">Phys Occup Ther Pediatr</span>
|
||
2012 Feb;32(1):80-96.
|
||
Epub 2011 Jul 6
|
||
doi: 10.3109/01942638.2011.593619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21728924" target="_blank">21728924</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteochondrodysplasia%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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|
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</div>
|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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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=(%22osteochondrodysplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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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