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Blomstrand lethal osteochondrodysplasia

✍ Scribed by Leroy, Jules G.; Keersmaeckers, Guy; Coppens, Mieke; Dumon, Jan E.; Roels, Hendrik

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 61 KB
Volume: 63
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960503)63:1<84::aid-ajmg17>3.0.co;2-q

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✦ Synopsis

We present the clinical, roentgenographic, and histologic abnormalities in a stillborn infant with Blomstrand osteochondrodysplasia. Parental consanguinity and multiplex occurrence in the patients' sibship confirm the hypothesis of autosomal recessive inheritance of this monogenic lethal entity. The unknown genetic defect interferes severely with skeletal growth through lack of chondrocyte multiplication and apparent uncoupling of the processes of enchondral ossification and skeletal growth.

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