platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)
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Pathology
- the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in resting cartilage
- relatively well-preserved columnar formation & ossification at the chondro-osseous junction
Genetics
- associated with defects in COL2A1
Clinical manifestations
- severe platyspondyly & limb shortening
- varying platyspondyly
- short ribs with anterior cupping
- hypoplasia of the lower ilia with broad ischial bone & pubic bone
- shortening of the tubular bones with splayed & cupped metaphyses
- generally a perinatally lethal disease, but a few long-term survivors have been reported