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Wafer-thin platyspondyly

MedGen UID:
Concept ID:
HPO: HP:0008452

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWafer-thin platyspondyly

Conditions with this feature

Platyspondylic dysplasia, Torrance type
MedGen UID:
Concept ID:
Disease or Syndrome
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).

Recent clinical studies


Brodie SG, Lachman RS, Jewell AF, Winkler CL, Nolasco L, Wilcox WR
Am J Med Genet 1998 Dec 4;80(4):423-8. doi: 10.1002/(sici)1096-8628(19981204)80:4<423::aid-ajmg23>3.0.co;2-n. PMID: 9856576

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