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a skeletal dysplasia characterized by disproportionate dwarfism in which the trunk is long relative to the limbs at birth, but undergoes reversal of this proportion with subsequent development with severe and progressive kyphoscoliosis; there is metaphysial flare of long bones, the pelvis is halberd-shaped, and the coccyx is long, resulting in a sacral appendage; autosomal recessive inheritance.
parastremmatic dwarfismA rare autosomal dominant bone dysplasia (OMIM:168400) characterised by severe dwarfism, kyphoscoliosis, bowing of extremities and contractures of large joints. Heart, eyes and intelligence are normal.
Decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification, with calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses.
Caused by defects in TRPV4, which encodes a nonselective cation channel that is thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure.
A form of short-limbed dwarfism in which affected persons are born with a normal or long thorax but eventually develop kyphoscoliosis with a short trunk.