Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

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Abstract
PLSD-T is a common subtype of PLSD.2 The radiological characteristics include wafer-like vertebral bodies, severe hypoplasia of the lower ilia, extremely short long bones with ragged metaphyses, and bowing of the radius. Its chondro-osseous histology is characterised by hypercellularity with slightly large chondrocytes in the resting cartilage and normal columnisation with incorporation of cartilage into bone at the chondro-osseous junction.1, 2 These radiological and histological findings of the disorder can be used to discriminate it from other lethal or semilethal skeletal dysplasias including TD.

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