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1.

Platyspondylic dysplasia, Torrance type

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). [from OMIM]

MedGen UID:
331974
Concept ID:
C1835437
Disease or Syndrome
2.

Wafer-thin platyspondyly

MedGen UID:
400688
Concept ID:
C1865124
Finding

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