Search
platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)
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
General
platyspondylic lethal skeletal dysplasia (PLSD)
Database Correlations
OMIM 151210
References
OMIM :accession 151210