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<meta name="keywords" content="C4020847, abnormal pelvic girdle bone morphology, abnormal shape of pelvic girdle bone, abnormality of pelvic girdle bone morphology, abnormality of the pelvic girdle, anatomical abnormality, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Abnormal pelvic girdle bone morphology (Concept Id: C4020847)
- MedGen - NCBI</title>
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<!--
UID=866545
ConceptID=C4020847
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal pelvic girdle bone morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866545</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)&#10;Click for more information.">C4020847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Abnormal shape of pelvic girdle bone; Abnormality of pelvic girdle bone morphology; Abnormality of the pelvic girdle</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002644">HP:0002644</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
<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>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4020847[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=866545">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Abnormal pelvic girdle bone morphology</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/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868758" ref="tree=MeSH" title="MedGen record for Abnormal appendicular skeleton morphology">Abnormal appendicular skeleton morphology</a></span><ul><li><span class="matched_ds">Abnormal pelvic girdle bone morphology</span><ul><li><span class="TLline"><a href="/medgen/870221" ref="tree=MeSH" title="MedGen record for Abnormal coccyx morphology">Abnormal coccyx morphology</a></span><ul><li><span class="TLline"><a href="/medgen/478747" ref="tree=MeSH" title="MedGen record for Caudal appendage">Caudal appendage</a></span></li><li><span class="TLline"><a href="/medgen/478746" ref="tree=MeSH" title="MedGen record for Long coccyx">Long coccyx</a></span></li><li><span class="TLline"><a href="/medgen/868099" ref="tree=MeSH" title="MedGen record for Prominent coccyx">Prominent coccyx</a></span></li><li><span class="TLline"><a href="/medgen/868098" ref="tree=MeSH" title="MedGen record for Protruding coccyx">Protruding coccyx</a></span><ul><li><span class="TLline"><a href="/medgen/337953" ref="tree=MeSH" title="MedGen record for Prominent protruding coccyx">Prominent protruding coccyx</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/869395" ref="tree=MeSH" title="MedGen record for Abnormal greater sciatic notch morphology">Abnormal greater sciatic notch morphology</a></span><ul><li><span class="TLline"><a href="/medgen/154353" ref="tree=MeSH" title="MedGen record for Narrow greater sciatic notch">Narrow greater sciatic notch</a></span></li><li><span class="TLline"><a href="/medgen/401058" ref="tree=MeSH" title="MedGen record for Short greater sciatic notch">Short greater sciatic notch</a></span></li><li><span class="TLline"><a href="/medgen/870186" ref="tree=MeSH" title="MedGen record for Widened greater sciatic notch">Widened greater sciatic notch</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867370" ref="tree=MeSH" title="MedGen record for Abnormal hip bone morphology">Abnormal hip bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867381" ref="tree=MeSH" title="MedGen record for Abnormal ilium morphology">Abnormal ilium morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868751" ref="tree=MeSH" title="MedGen record for Abnormal iliac wing morphology">Abnormal iliac wing morphology</a></span></li><li><span class="TLline"><a href="/medgen/348814" ref="tree=MeSH" title="MedGen record for Hypoplastic ilia">Hypoplastic ilia</a></span></li><li><span class="TLline"><a href="/medgen/344438" ref="tree=MeSH" title="MedGen record for Irregular iliac crest">Irregular iliac crest</a></span></li><li><span class="TLline"><a href="/medgen/1863788" ref="tree=MeSH" title="MedGen record for Sclerotic ilium">Sclerotic ilium</a></span></li><li><span class="TLline"><a href="/medgen/338648" ref="tree=MeSH" title="MedGen record for Snail-like ilia">Snail-like ilia</a></span></li><li><span class="TLline"><a href="/medgen/324963" ref="tree=MeSH" title="MedGen record for Squared iliac bones">Squared iliac bones</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1853269" ref="tree=MeSH" title="MedGen record for Abnormal ischium morphology">Abnormal ischium morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1863625" ref="tree=MeSH" title="MedGen record for Abnormal ischium ossification">Abnormal ischium ossification</a></span></li><li><span class="TLline"><a href="/medgen/324622" ref="tree=MeSH" title="MedGen record for Broad ischia">Broad ischia</a></span></li><li><span class="TLline"><a href="/medgen/347146" ref="tree=MeSH" title="MedGen record for Hypoplastic ischia">Hypoplastic ischia</a></span></li><li><span class="TLline"><a href="/medgen/867527" ref="tree=MeSH" title="MedGen record for Narrow foramen obturatorium">Narrow foramen obturatorium</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867373" ref="tree=MeSH" title="MedGen record for Abnormal pubic bone morphology">Abnormal pubic bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/387763" ref="tree=MeSH" title="MedGen record for Wide pubic symphysis">Wide pubic symphysis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5556" ref="tree=MeSH" title="MedGen record for Arthralgia of the hip">Arthralgia of the hip</a></span></li><li><span class="TLline"><a href="/medgen/395992" ref="tree=MeSH" title="MedGen record for Coxa magna">Coxa magna</a></span></li><li><span class="TLline"><a href="/medgen/1640560" ref="tree=MeSH" title="MedGen record for Developmental dysplasia of the hip">Developmental dysplasia of the hip</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892714" ref="tree=MeSH" title="MedGen record for Abnormal pelvis bone morphology">Abnormal pelvis bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/91134" ref="tree=MeSH" title="MedGen record for Fractured ilium">Fractured ilium</a></span></li><li><span class="TLline"><a href="/medgen/478749" ref="tree=MeSH" title="MedGen record for Halberd-shaped pelvis">Halberd-shaped pelvis</a></span></li><li><span class="TLline"><a href="/medgen/892637" ref="tree=MeSH" title="MedGen record for Large pelvis bone">Large pelvis bone</a></span></li><li><span class="TLline"><a href="/medgen/336266" ref="tree=MeSH" title="MedGen record for Narrow pelvis bone">Narrow pelvis bone</a></span></li><li><span class="TLline"><a href="/medgen/866907" ref="tree=MeSH" title="MedGen record for Pelvic bone asymmetry">Pelvic bone asymmetry</a></span></li><li><span class="TLline"><a href="/medgen/1055555" ref="tree=MeSH" title="MedGen record for Pelvis fracture">Pelvis fracture</a></span></li><li><span class="TLline"><a href="/medgen/337928" ref="tree=MeSH" title="MedGen record for Square pelvis bone">Square pelvis bone</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870164" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving the pelvis">Aplasia/Hypoplasia involving the pelvis</a></span><ul><li><span class="TLline"><a href="/medgen/870161" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving the femoral head and neck">Aplasia/Hypoplasia involving the femoral head and neck</a></span><ul><li><span class="TLline"><a href="/medgen/867566" ref="tree=MeSH" title="MedGen record for Aplasia of the femoral head">Aplasia of the femoral head</a></span></li><li><span class="TLline"><a href="/medgen/867565" ref="tree=MeSH" title="MedGen record for Aplasia of the femoral neck">Aplasia of the femoral neck</a></span></li><li><span class="TLline"><a href="/medgen/384014" ref="tree=MeSH" title="MedGen record for Hypoplasia of the femoral head">Hypoplasia of the femoral head</a></span></li><li><span class="TLline"><a href="/medgen/373033" ref="tree=MeSH" title="MedGen record for Short femoral neck">Short femoral neck</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/338651" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the pubic bone">Aplasia/Hypoplasia of the pubic bone</a></span><ul><li><span class="TLline"><a href="/medgen/338517" ref="tree=MeSH" title="MedGen record for Aplastic pubic bone">Aplastic pubic bone</a></span></li><li><span class="TLline"><a href="/medgen/355894" ref="tree=MeSH" title="MedGen record for Hypoplastic pubic bone">Hypoplastic pubic bone</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/760700" ref="tree=MeSH" title="MedGen record for Hypoplastic pelvis">Hypoplastic pelvis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_64221"><div><strong>Saethre-Chotzen syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>64221</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)&#10;Click for more information.">C0175699</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), strabismus, ptosis, and characteristic appearance of the ear (small pinna with a prominent superior and/or inferior crus). Syndactyly of digits two and three of the hand is variably present. Cognitive development is usually normal, although those with a large genomic deletion are at an increased risk for intellectual challenges. Less common manifestations of SCS include other skeletal findings (parietal foramina, vertebral segmentation defects, radioulnar synostosis, maxillary hypoplasia, ocular hypertelorism, hallux valgus, duplicated or curved distal hallux), hypertelorism, palatal anomalies, obstructive sleep apnea, increased intracranial pressure, short stature, and congenital heart malformations.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/64221">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)&#10;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_66357"><div><strong>Oromandibular-limb hypogenesis spectrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66357</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)&#10;Click for more information.">C0221060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003).&#13; The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (HCFP; see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem.&#13; Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012).&#13; Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66357">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75673"><div><strong>Osteogenesis imperfecta, perinatal lethal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75673</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)&#10;Click for more information.">C0268358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</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/75673">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_79381"><div><strong>Chondrodysplasia punctata 2 X-linked dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>79381</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)&#10;Click for more information.">C0282102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. At least 95% of live-born individuals with CDPX2 are female. Characteristic features include growth deficiency; distinctive craniofacial appearance; chondrodysplasia punctata (stippling of the epiphyses of the long bones, vertebrae, trachea, and distal ends of the ribs); often asymmetric rhizomelic shortening of limbs; scoliosis; linear or blotchy scaling ichthyosis in the newborn; later appearance of linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; and cataracts.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/79381">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_140932"><div><strong>Worth disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140932</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)&#10;Click for more information.">C0432273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant endosteal hyperostosis is a generalized bone dysplasia characterized by a cortical thickening of the long bones, with no alteration in external shape, and a remarkable resistance of the bone to fracture. The skeleton is normal in childhood. Facial metamorphoses occur in adolescence, as the forehead flattens, the mandible becomes elongated, and the gonial angle decreases. An enlarging osseous prominence (torus palatinus) develops in the hard palate, which may lead to malocclusion or loss of teeth (summary by Van Wesenbeeck et al., 2003).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140932">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_196551"><div><strong>Familial X-linked hypophosphatemic vitamin D refractory rickets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196551</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)&#10;Click for more information.">C0733682</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower extremity bowing and/or craniosynostosis, usually involving the sagittal suture with consequent scaphocephaly. XLH typically manifests in the first two years of life with lower extremity bowing due to the onset of weight-bearing; however, it sometimes does not manifest until adulthood, as previously unevaluated short stature. Adults may present with calcification of the tendons, ligaments, and joint capsules, joint pain, fatigue, insufficiency fractures, and impaired mobility. Persons with XLH are prone to spontaneous dental abscesses; sensorineural hearing loss has also been reported. Rarely, individuals with XLH can suffer from spinal stenosis, Chiari I malformation, syringomyelia, and/or raised intracranial pressure.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/196551">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_163204"><div><strong>Peters plus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163204</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)&#10;Click for more information.">C0796012</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay / intellectual disability. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Cataracts and glaucoma are common. Developmental delay is observed in about 80% of children; intellectual disability can range from mild to severe.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163204">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_320444"><div><strong>Metaphyseal dysplasia without hypotrichosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320444</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)&#10;Click for more information.">C1834821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</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/320444">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_374033"><div><strong>Bladder exstrophy-epispadias-cloacal extrophy complex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374033</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)&#10;Click for more information.">C1838703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.&#13; Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (258040). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.&#13; Reutter et al. (2016) reviewed the epidemiology, potential mechanisms, and animal models for BEEC. They described BEEC as a spectrum of component malformations of variable severity, including epispadias as the mildest phenotype and classic bladder exstrophy as the most common, with cloacal exstrophy representing the most severe form. In approximately one-third of cases, urologic malformations are present, including ectopic kidney, renal agenesis, and/or hydronephrosis. Other malformations involving the gastrointestinal, skeletal, spinal, and genitourinary systems, including cryptorchidism and ambiguous genitalia, are reported frequently. The authors noted that cloacal exstrophy is considered by some to have a different embryologic origin from classic bladder exstrophy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/374033">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_335932"><div><strong>Autosomal dominant osteopetrosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335932</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)&#10;Click for more information.">C1843330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 (OPTA1) is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate (summary by Van Hul et al., 2002).&#13; Genetic Heterogeneity of Autosomal Dominant Osteopetrosis&#13; Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13. Autosomal dominant osteopetrosis-3 (OPTA3; 618107) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335932">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341339"><div><strong>Spondylocarpotarsal synostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341339</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)&#10;Click for more information.">C1848934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341339">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_337989"><div><strong>Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337989</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)&#10;Click for more information.">C1850185</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/337989">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_338072"><div><strong>Atelosteogenesis type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338072</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)&#10;Click for more information.">C1850554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Clinical features of SLC26A2-related atelosteogenesis include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. SLC26A2-related atelosteogenesis is usually lethal at birth or shortly thereafter due to pulmonary hypoplasia and tracheobronchomalacia. However, it exists in a continuous phenotypic spectrum with SLC26A2-related diastrophic dysplasia, and long-term survivors have been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/338072">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_338945"><div><strong>Craniometaphyseal dysplasia, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338945</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)&#10;Click for more information.">C1852502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, paranasal bossing, widely spaced eyes with an increase in bizygomatic width, and prominent mandible. Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone. Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural hearing loss). In individuals with typical uncomplicated AD-CMD life expectancy is normal; in those with severe AD-CMD life expectancy can be reduced as a result of compression of the foramen magnum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/338945">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341734"><div><strong>Rhizomelic chondrodysplasia punctata type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341734</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)&#10;Click for more information.">C1857242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (215100) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).&#13; For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341734">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_354935"><div><strong>Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354935</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)&#10;Click for more information."><span class="highlight" style="background-color:">C1863236</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The ADA deficiency phenotypic spectrum includes typical early-onset severe combined immunodeficiency (ADA-SCID), diagnosed in infancy (about 80% of individuals), and less severe "delayed" or "late-onset" combined immunodeficiency (ADA-CID), diagnosed in older children and adults (15%-20% of individuals). Some healthy individuals who are deficient in red blood cell ADA (termed "partial ADA deficiency") have been discovered by screening populations or relatives of individuals with ADA-SCID. Newborn screening (NBS) for SCID uses extracts from Guthrie card dried blood spots to measure T-cell receptor excision circle (TREC) DNA by polymerase chain reaction (PCR). Screening specific for ADA deficiency can also be performed by detection of elevated levels of adenosine (Ado) and deoxyadenosine (dAdo) by tandem mass spectrometry (TMS). Both techniques can identify ADA-SCID before affected infants become symptomatic. Untreated ADA-SCID presents as life-threatening opportunistic illnesses in the first weeks to months of life with poor linear growth and weight gain secondary to persistent diarrhea, extensive dermatitis, and recurrent pneumonia. Skeletal abnormalities affecting ribs and vertebra, pulmonary alveolar proteinosis, hemolytic anemia, neurologic abnormalities, and transaminitis may also suggest untreated ADA-SCID. Characteristic immune abnormalities are lymphocytopenia (low numbers of T, B, and NK cells) combined with the absence of both humoral and cellular immune function. If immune function is not restored with enzyme replacement therapy (ERT), gene therapy, or hematopoietic stem cell transplantation (HSCT), children with ADA-SCID rarely survive beyond age one to two years. NBS for SCID does not identify individuals with the ADA-CID phenotype whose TREC numbers are above the threshold values of most screening laboratories. However, ADA-CID is identified by TMS NBS since the ADA substrates Ado and dAdo are increased. As TMS NBS for Ado/dAdo is not yet widely performed, individuals with ADA-CID are more often clinically diagnosed between ages one and ten years ("delayed" onset), or less often in the second to fourth decades ("late"/"adult" onset). Because the immunologic abnormalities are less pronounced than those of ADA-SCID, infections in ADA-CID may not be life-threatening and include recurrent otitis media, sinusitis, upper respiratory infections, and human papilloma viral infections. Untreated individuals with ADA-CID can develop over time chronic pulmonary disease, autoimmunity, atopic disease with elevated immunoglobulin E, and malignancy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/354935">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_419332"><div><strong>Osteogenesis imperfecta type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419332</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)&#10;Click for more information.">C2931093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160).&#13; Glorieux et al. (2000) described a novel autosomal dominant form of OI, which they designated OI type V (OI5), in 7 patients. The disorder was similar to OI type IV but had distinctive clinical, histologic, and molecular characteristics. OI type V is characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation (summary by Cho et al., 2012). OI type V has a variable phenotype. For example, in patients with the more common c.-14C-T variant (614757.0001), distinctive radiographic findings (calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation) are often seen, whereas these findings are not seen in patients with the less common S40L variant (614757.0002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/419332">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_465707"><div><strong>Autosomal dominant osteopetrosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>465707</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)&#10;Click for more information.">C3179239</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related autosomal recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII; Albers-Schönberg disease). ARO. Onset is at birth. Findings may include: fractures; reduced growth; sclerosis of the skull base (with or without choanal stenosis or hydrocephalus) resulting in optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental abnormalities, odontomas, and risk for mandibular osteomyelitis; and hypocalcemia with tetanic seizures and secondary hyperparathyroidism. Without treatment maximal life span in ARO is ten years. IAO. Onset is in childhood. Findings may include: fractures after minor trauma, characteristic skeletal radiographic changes found incidentally, mild anemia, and occasional visual impairment secondary to optic nerve compression. Life expectancy in IAO is usually normal. ADOII. Onset is usually late childhood or adolescence. Findings may include: fractures (in any long bone and/or the posterior arch of a vertebra), scoliosis, hip osteoarthritis, and osteomyelitis of the mandible or septic osteitis or osteoarthritis elsewhere. Cranial nerve compression is rare.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/465707">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1642815"><div><strong>Sclerosteosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642815</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)&#10;Click for more information.">C4551483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SOST-related sclerosing bone dysplasias include SOST-related sclerosteosis and SOST-related endosteal hyperostosis, van Buchem type (van Buchem disease), both disorders of progressive bone overgrowth due to increased bone formation. The major clinical features of SOST-related sclerosteosis are progressive skeletal overgrowth, most pronounced in the skull and mandible, and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Facial distortion due to frontal bossing and mandibular overgrowth is seen in nearly all individuals and becomes apparent in early childhood with progression into adulthood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (leading to facial palsy) with other, less common nerve entrapment syndromes including visual loss (2nd cranial nerve), neuralgia or anosmia (5th cranial nerve), and sensorineural hearing loss (8th cranial nerve). In SOST-related sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with SOST-related sclerosteosis into old age is unusual but not unprecedented. The manifestations of van Buchem disease are generally milder than SOST-related sclerosteosis. Stature is typically normal, cranial nerve entrapment of the seventh and eighth cranial nerves are common, and increased intracranial pressure is rare, seen only in severely affected individuals. Individuals with van Buchem disease do not have syndactyly or other digit deformities. Life span appears not to be altered.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1642815">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1641069"><div><strong>Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641069</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)&#10;Click for more information.">C4551951</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1641069">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1641240"><div><strong>Meier-Gorlin syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641240</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)&#10;Click for more information.">C4552001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011).&#13; Genetic Heterogeneity of Meier-Gorlin Syndrome&#13; Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12.&#13; An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1641240">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1800401"><div><strong>Hereditary spastic paraplegia 9A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800401</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)&#10;Click for more information.">C5568978</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1800401">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atelosteogenesis type II</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant osteopetrosis 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_465707" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant osteopetrosis 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bladder exstrophy-epispadias-cloacal extrophy complex</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_79381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chondrodysplasia punctata 2 X-linked dominant</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniometaphyseal dysplasia, autosomal dominant</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_196551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial X-linked hypophosphatemic vitamin D refractory rickets</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800401" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 9A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641240" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 1</a></div>
<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_320444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal dysplasia without hypotrichosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oromandibular-limb hypogenesis spectrum</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419332" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75673" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta, perinatal lethal</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163204" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peters plus syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341734" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rhizomelic chondrodysplasia punctata type 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_64221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Saethre-Chotzen syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1642815" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sclerosteosis 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocarpotarsal synostosis syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Worth disease</a></div></span></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/31994478">Prevalence of cranial involvement in a cohort of Italian patients with chronic non-bacterial osteomyelitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrara G,
Insalaco A,
Pardeo M,
Cattalini M,
La Torre F,
Finetti M,
Ricci F,
Alizzi C,
Teruzzi B,
Simonini G,
Messia V,
Pastore S,
Morra L,
Cimaz R,
Gattorno M,
Taddio A;
Italian Paediatric Rheumatology Study Group</span><br />
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
2020 Mar-Apr;38(2):366-369.
Epub 2020 Jan 29
doi: 10.55563/clinexprheumatol/3c9vlq.
<span class="bold">PMID: </span><a href="/pubmed/31994478" target="_blank">31994478</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28062382">Fourteen years follow-up of massive pelvic girdle osteolysis caused by lymphatic malformation (Gorham-Stout Disease).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ballas R,
Caduc M,
Ovigue J,
Elkienbaum P,
Sauvat F</span><br />
<span class="medgenPMjournal">Joint Bone Spine</span>
2017 Oct;84(5):625.
Epub 2017 Jan 3
doi: 10.1016/j.jbspin.2016.12.009.
<span class="bold">PMID: </span><a href="/pubmed/28062382" target="_blank">28062382</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17326845">Whole body MR imaging in ankylosing spondylitis: a descriptive pilot study in patients with suspected early and active confirmed ankylosing spondylitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weber U,
Pfirrmann CW,
Kissling RO,
Hodler J,
Zanetti M</span><br />
<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
2007 Feb 27;8:20.
doi: 10.1186/1471-2474-8-20.
<span class="bold">PMID: </span><a href="/pubmed/17326845" target="_blank">17326845</a><a href="/pmc/articles/PMC1810253" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15850368">Manifestations of hereditary multiple exostoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stieber JR,
Dormans JP</span><br />
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
2005 Mar-Apr;13(2):110-20.
doi: 10.5435/00124635-200503000-00004.
<span class="bold">PMID: </span><a href="/pubmed/15850368" target="_blank">15850368</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6676348">A case of progressive scoliosis in a patient with craniocleidopelvic dysostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Taglialavoro G,
Fabris D,
Agostini S</span><br />
<span class="medgenPMjournal">Ital J Orthop Traumatol</span>
1983 Dec;9(4):507-13.
<span class="bold">PMID: </span><a href="/pubmed/6676348" target="_blank">6676348</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pelvic%20girdle%20bone%20morphology%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/31994478">Prevalence of cranial involvement in a cohort of Italian patients with chronic non-bacterial osteomyelitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrara G,
Insalaco A,
Pardeo M,
Cattalini M,
La Torre F,
Finetti M,
Ricci F,
Alizzi C,
Teruzzi B,
Simonini G,
Messia V,
Pastore S,
Morra L,
Cimaz R,
Gattorno M,
Taddio A;
Italian Paediatric Rheumatology Study Group</span><br />
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
2020 Mar-Apr;38(2):366-369.
Epub 2020 Jan 29
doi: 10.55563/clinexprheumatol/3c9vlq.
<span class="bold">PMID: </span><a href="/pubmed/31994478" target="_blank">31994478</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25323186">Spinal and pelvic corrections in a patient with spondylocostal dysplasia syndrome and hemimyelomeningocele.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Al Kaissi A,
Stuecker R,
Ganger R,
Klaushofer K,
Grill F</span><br />
<span class="medgenPMjournal">Afr J Paediatr Surg</span>
2014 Oct-Dec;11(4):341-6.
doi: 10.4103/0189-6725.143163.
<span class="bold">PMID: </span><a href="/pubmed/25323186" target="_blank">25323186</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17326845">Whole body MR imaging in ankylosing spondylitis: a descriptive pilot study in patients with suspected early and active confirmed ankylosing spondylitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weber U,
Pfirrmann CW,
Kissling RO,
Hodler J,
Zanetti M</span><br />
<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
2007 Feb 27;8:20.
doi: 10.1186/1471-2474-8-20.
<span class="bold">PMID: </span><a href="/pubmed/17326845" target="_blank">17326845</a><a href="/pmc/articles/PMC1810253" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2801764">Acrofacial dysostoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Le Merrer M,
Cikuli M,
Ribier J,
Briard ML</span><br />
<span class="medgenPMjournal">Am J Med Genet</span>
1989 Jul;33(3):318-22.
doi: 10.1002/ajmg.1320330307.
<span class="bold">PMID: </span><a href="/pubmed/2801764" target="_blank">2801764</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1150706">Congenital dislocation of the hip associated with central core disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ramsey PL,
Hensinger RN</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
1975 Jul;57(5):648-51.
<span class="bold">PMID: </span><a href="/pubmed/1150706" target="_blank">1150706</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pelvic%20girdle%20bone%20morphology%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/28062382">Fourteen years follow-up of massive pelvic girdle osteolysis caused by lymphatic malformation (Gorham-Stout Disease).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ballas R,
Caduc M,
Ovigue J,
Elkienbaum P,
Sauvat F</span><br />
<span class="medgenPMjournal">Joint Bone Spine</span>
2017 Oct;84(5):625.
Epub 2017 Jan 3
doi: 10.1016/j.jbspin.2016.12.009.
<span class="bold">PMID: </span><a href="/pubmed/28062382" target="_blank">28062382</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17326845">Whole body MR imaging in ankylosing spondylitis: a descriptive pilot study in patients with suspected early and active confirmed ankylosing spondylitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weber U,
Pfirrmann CW,
Kissling RO,
Hodler J,
Zanetti M</span><br />
<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
2007 Feb 27;8:20.
doi: 10.1186/1471-2474-8-20.
<span class="bold">PMID: </span><a href="/pubmed/17326845" target="_blank">17326845</a><a href="/pmc/articles/PMC1810253" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6676348">A case of progressive scoliosis in a patient with craniocleidopelvic dysostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Taglialavoro G,
Fabris D,
Agostini S</span><br />
<span class="medgenPMjournal">Ital J Orthop Traumatol</span>
1983 Dec;9(4):507-13.
<span class="bold">PMID: </span><a href="/pubmed/6676348" target="_blank">6676348</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pelvic%20girdle%20bone%20morphology%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/26048863">Relevance of discrete traits in forensic anthropology: From the first cervical vertebra to the pelvic girdle.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Verna E,
Piercecchi-Marti MD,
Chaumoitre K,
Adalian P</span><br />
<span class="medgenPMjournal">Forensic Sci Int</span>
2015 Aug;253:134.e1-7.
Epub 2015 May 14
doi: 10.1016/j.forsciint.2015.05.005.
<span class="bold">PMID: </span><a href="/pubmed/26048863" target="_blank">26048863</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17326845">Whole body MR imaging in ankylosing spondylitis: a descriptive pilot study in patients with suspected early and active confirmed ankylosing spondylitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weber U,
Pfirrmann CW,
Kissling RO,
Hodler J,
Zanetti M</span><br />
<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
2007 Feb 27;8:20.
doi: 10.1186/1471-2474-8-20.
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<div class="nl"><a target="_blank" href="/pubmed/2801764">Acrofacial dysostoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Le Merrer M,
Cikuli M,
Ribier J,
Briard ML</span><br />
<span class="medgenPMjournal">Am J Med Genet</span>
1989 Jul;33(3):318-22.
doi: 10.1002/ajmg.1320330307.
<span class="bold">PMID: </span><a href="/pubmed/2801764" target="_blank">2801764</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pelvic%20girdle%20bone%20morphology%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 (3)</a></div></div>
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