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<!--
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UID=337984
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ConceptID=C1850171
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neonatal short-limb short stature</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337984</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.">C1850171</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Dwarfism, neonatal short-limbed; Dwarfism, short limbed, recognizable at birth; Short limb dwarfism recognizable at birth; Short-limb dwarfism identifiable at birth; Short-limb dwarfism identifiable neonatally; Short-limbed dwarfism identifiable at birth</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0008921">HP:0008921</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A type of short-limbed dwarfism that is manifest beginning in the neonatal period. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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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">Neonatal short-limb short stature</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/808205" ref="tree=MeSH" title="MedGen record for Growth abnormality">Growth abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/99124" ref="tree=MeSH" title="MedGen record for Growth delay">Growth delay</a></span><ul><li><span class="TLline"><a href="/medgen/87607" ref="tree=MeSH" title="MedGen record for Short stature">Short stature</a></span><ul><li><span class="TLline"><a href="/medgen/168053" ref="tree=MeSH" title="MedGen record for Disproportionate short stature">Disproportionate short stature</a></span><ul><li><span class="TLline"><a href="/medgen/342370" ref="tree=MeSH" title="MedGen record for Disproportionate short-limb short stature">Disproportionate short-limb short stature</a></span><ul><li><span class="matched_ds">Neonatal short-limb short stature</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_1289"><div><strong>Achondroplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1289</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.">C0001080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1289">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_8584"><div><strong>Ellis-van Creveld syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8584</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.">C0013903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ellis-van Creveld (EVC) syndrome is characterized by postaxial polydactyly of the hands, disproportionate short stature with short limbs, dystrophic and/or hypoplastic nails, dental and oral manifestations, congenital heart disease, and radiologic abnormalities (narrow chest, short ribs, short tubular bones, bulbous ends of the proximal ulnae and distal radii, carpal and metacarpal fusions, cone-shaped epiphyses of phalanges, small iliac crests, acetabular spur projections [trident ilia], and lateral slanting of the tibial plateau). Other less common and more variable features include postaxial polydactyly of the feet, upper lip defect, and developmental delay.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8584">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_113103"><div><strong>Diastrophic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113103</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.">C0220726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion, the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113103">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_67398"><div><strong>Metaphyseal chondrodysplasia, McKusick type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67398</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.">C0220748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67398">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78547"><div><strong>Achondrogenesis, type IB</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78547</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.">C0265274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton. The face is flat, the neck is short, and the soft tissue of the neck may be thickened. Death occurs prenatally or shortly after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78547">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78664"><div><strong>Osteogenesis imperfecta type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78664</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.">C0268362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78664">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98145"><div><strong>Rolland-Debuqois syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98145</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.">C0432209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The dyssegmental dysplasias are lethal forms of neonatal short-limbed dwarfism. Handmaker et al. (1977) coined the term 'dyssegmental dysplasia' because of the marked differences in size and shape of the vertebral bodies (anisospondyly), which he attributed to errors in segmentation. Fasanelli et al. (1985) proposed that there are different forms of dyssegmental dwarfism, a lethal Silverman-Handmaker type (224410) and a less severe Rolland-Desbuquois type. The Rolland-Desbuquois form is lethal in about 40% of patients. Although many patients survive beyond the newborn period, all exhibit neonatal distress (summary by Hennekam et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98145">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331974"><div><strong>Platyspondylic dysplasia, Torrance type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331974</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.">C1835437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Torrance type of platyspondylic lethal skeletal dysplasia (PLSDT) is an autosomal dominant disorder characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondroosseous junction. Though generally lethal in the perinatal period, longer survival has been reported (summary by Zankl et al., 2005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331974">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354620"><div><strong>Camptomelic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354620</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.">C1861922</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354620">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achondrogenesis, type IB</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achondroplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptomelic dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_113103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diastrophic dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_8584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ellis-van Creveld syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67398" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, McKusick type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type III</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platyspondylic dysplasia, Torrance type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rolland-Debuqois syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19399756">Prenatal diagnosis of achondroplasia: new specific signs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boulet S,
|
||
Althuser M,
|
||
Nugues F,
|
||
Schaal JP,
|
||
Jouk PS</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2009 Jul;29(7):697-702.
|
||
doi: 10.1002/pd.2280.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19399756" target="_blank">19399756</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neonatal%20short-limb%20short%20stature)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31294928">Epidemiology of achondroplasia: A population-based study in Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coi A,
|
||
Santoro M,
|
||
Garne E,
|
||
Pierini A,
|
||
Addor MC,
|
||
Alessandri JL,
|
||
Bergman JEH,
|
||
Bianchi F,
|
||
Boban L,
|
||
Braz P,
|
||
Cavero-Carbonell C,
|
||
Gatt M,
|
||
Haeusler M,
|
||
Klungsøyr K,
|
||
Kurinczuk JJ,
|
||
Lanzoni M,
|
||
Lelong N,
|
||
Luyt K,
|
||
Mokoroa O,
|
||
Mullaney C,
|
||
Nelen V,
|
||
Neville AJ,
|
||
O'Mahony MT,
|
||
Perthus I,
|
||
Rankin J,
|
||
Rissmann A,
|
||
Rouget F,
|
||
Schaub B,
|
||
Tucker D,
|
||
Wellesley D,
|
||
Wisniewska K,
|
||
Zymak-Zakutnia N,
|
||
Barišić I</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Sep;179(9):1791-1798.
|
||
Epub 2019 Jul 11
|
||
doi: 10.1002/ajmg.a.61289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31294928" target="_blank">31294928</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30847897">A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuroda Y,
|
||
Murakami H,
|
||
Enomoto Y,
|
||
Tsurusaki Y,
|
||
Takahashi K,
|
||
Mitsuzuka K,
|
||
Ishimoto H,
|
||
Nishimura G,
|
||
Kurosawa K</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2019 Jun;95(6):713-717.
|
||
Epub 2019 Apr 11
|
||
doi: 10.1111/cge.13530.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30847897" target="_blank">30847897</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27257098">Achondroplasia: Really rhizomelic?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shelmerdine SC,
|
||
Brittain H,
|
||
Arthurs OJ,
|
||
Calder AD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Aug;170(8):2039-43.
|
||
Epub 2016 Jun 3
|
||
doi: 10.1002/ajmg.a.37776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27257098" target="_blank">27257098</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23259870">Recurrent short rib polydactyly syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eleftheriades M,
|
||
Iavazzo C,
|
||
Manolakos E,
|
||
Hassiakos D,
|
||
Botsis D,
|
||
Petersen M,
|
||
Konstantinidou A</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol</span>
|
||
2013 Jan;33(1):14-6.
|
||
doi: 10.3109/01443615.2012.698334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23259870" target="_blank">23259870</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10405653">Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lemyre E,
|
||
Azouz EM,
|
||
Teebi AS,
|
||
Glanc P,
|
||
Chen MF</span><br />
|
||
<span class="medgenPMjournal">Can Assoc Radiol J</span>
|
||
1999 Jun;50(3):185-97.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10405653" target="_blank">10405653</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neonatal%20short-limb%20short%20stature%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27257098">Achondroplasia: Really rhizomelic?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shelmerdine SC,
|
||
Brittain H,
|
||
Arthurs OJ,
|
||
Calder AD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Aug;170(8):2039-43.
|
||
Epub 2016 Jun 3
|
||
doi: 10.1002/ajmg.a.37776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27257098" target="_blank">27257098</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19399756">Prenatal diagnosis of achondroplasia: new specific signs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boulet S,
|
||
Althuser M,
|
||
Nugues F,
|
||
Schaal JP,
|
||
Jouk PS</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2009 Jul;29(7):697-702.
|
||
doi: 10.1002/pd.2280.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19399756" target="_blank">19399756</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15876767">Fibrochondrogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kulkarni ML,
|
||
Matadh PS,
|
||
Praveen Prabhu SP,
|
||
Kulkarni PM</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2005 Apr;72(4):355-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15876767" target="_blank">15876767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7929504">Dyssegmental dysplasia: short-trunk, short-limb dwarfism with anisospondyly. A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reckling WC,
|
||
Cheng EY</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
1994 Oct;76(10):1551-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7929504" target="_blank">7929504</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7126786">Midtrimester prenatal diagnosis of short-limb dwarfism (Saldino-Noonan syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson VP,
|
||
Petersen LP,
|
||
Holzwarth DR,
|
||
Messner FD</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Orig Artic Ser</span>
|
||
1982;18(3 Pt A):133-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7126786" target="_blank">7126786</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neonatal%20short-limb%20short%20stature%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 (27)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/15605271">Short rib-polydactyly syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naki MM,
|
||
Gür D,
|
||
Zemheri E,
|
||
Tekcan C,
|
||
Kanadikirik F,
|
||
Has R</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2005 Jul;272(2):173-5.
|
||
Epub 2004 Dec 17
|
||
doi: 10.1007/s00404-004-0696-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15605271" target="_blank">15605271</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10362999">Camptomelic dysplasia: a case study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soell J</span><br />
|
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<span class="medgenPMjournal">Neonatal Netw</span>
|
||
1999 Mar;18(2):41-8.
|
||
doi: 10.1891/0730-0832.18.2.41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10362999" target="_blank">10362999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8723566">A new lethal neonatal short limb dwarfism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">al Gazali LI,
|
||
Devadas K,
|
||
Hall CM</span><br />
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||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
1996 Apr;5(2):159-64.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8723566" target="_blank">8723566</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8935269">Lethal forms of short limb dwarfism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srinath KS,
|
||
Bhat BV,
|
||
Kumar MR</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1995 Sep;32(9):1011-15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8935269" target="_blank">8935269</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8588573">Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Jong G,
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||
Muller LM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
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||
1995 Nov 6;59(2):134-8.
|
||
doi: 10.1002/ajmg.1320590203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8588573" target="_blank">8588573</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neonatal%20short-limb%20short%20stature%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31294928">Epidemiology of achondroplasia: A population-based study in Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coi A,
|
||
Santoro M,
|
||
Garne E,
|
||
Pierini A,
|
||
Addor MC,
|
||
Alessandri JL,
|
||
Bergman JEH,
|
||
Bianchi F,
|
||
Boban L,
|
||
Braz P,
|
||
Cavero-Carbonell C,
|
||
Gatt M,
|
||
Haeusler M,
|
||
Klungsøyr K,
|
||
Kurinczuk JJ,
|
||
Lanzoni M,
|
||
Lelong N,
|
||
Luyt K,
|
||
Mokoroa O,
|
||
Mullaney C,
|
||
Nelen V,
|
||
Neville AJ,
|
||
O'Mahony MT,
|
||
Perthus I,
|
||
Rankin J,
|
||
Rissmann A,
|
||
Rouget F,
|
||
Schaub B,
|
||
Tucker D,
|
||
Wellesley D,
|
||
Wisniewska K,
|
||
Zymak-Zakutnia N,
|
||
Barišić I</span><br />
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||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Sep;179(9):1791-1798.
|
||
Epub 2019 Jul 11
|
||
doi: 10.1002/ajmg.a.61289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31294928" target="_blank">31294928</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27257098">Achondroplasia: Really rhizomelic?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shelmerdine SC,
|
||
Brittain H,
|
||
Arthurs OJ,
|
||
Calder AD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Aug;170(8):2039-43.
|
||
Epub 2016 Jun 3
|
||
doi: 10.1002/ajmg.a.37776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27257098" target="_blank">27257098</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21204232">Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martínez-Frías ML,
|
||
Egüés X,
|
||
Puras A,
|
||
Hualde J,
|
||
de Frutos CA,
|
||
Bermejo E,
|
||
Nieto MA,
|
||
Martínez S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2011 Jan;155A(1):197-202.
|
||
doi: 10.1002/ajmg.a.33765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21204232" target="_blank">21204232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9463320">Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Briggs MD,
|
||
Mortier GR,
|
||
Cole WG,
|
||
King LM,
|
||
Golik SS,
|
||
Bonaventure J,
|
||
Nuytinck L,
|
||
De Paepe A,
|
||
Leroy JG,
|
||
Biesecker L,
|
||
Lipson M,
|
||
Wilcox WR,
|
||
Lachman RS,
|
||
Rimoin DL,
|
||
Knowlton RG,
|
||
Cohn DH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1998 Feb;62(2):311-9.
|
||
doi: 10.1086/301713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9463320" target="_blank">9463320</a><a href="/pmc/articles/PMC1376889" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1749675">Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shohat M,
|
||
Rimoin DL,
|
||
Gruber HE,
|
||
Lachman RS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
1991;21(6):421-7.
|
||
doi: 10.1007/BF02026677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1749675" target="_blank">1749675</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neonatal%20short-limb%20short%20stature%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 (8)</a></div></div>
|
||
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Neonatal%20short-limb%20short%20stature" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neonatal%20short-limb%20short%20stature)%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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d2d28e67c23b31e0c45709">Neonatal short-limb short stature</a>
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<div class="ralinkpop offscreen_noflow">Neonatal short-limb short stature<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d2d27584f3725e59453df7">Achondrogenesis Type 1B - GeneReviews®</a>
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<div class="tertiary"></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d2d2742f30673f7bf41c2b">Table B. [OMIM Entries for Achondrogenesis Type 1B (View All in OMIM)]. - GeneRe...</a>
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||
<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Achondrogenesis Type 1B (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary"></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d2d257cde49f3df7d978c2">RecName: Full=Sulfate transporter; AltName: Full=Diastrophic dysplasia protein; ...</a>
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