BLOMSTRAND LETHAL OSTEOCHONDRODYSPLASIA

We present the clinical, roentgenographic, and histologic abnormalitie s in a stillborn infant with Blomstrand osteochondrodysplasia, Parenta l consanguinity and multiplex occurrence in the patients' sibship conf irm the hypothesis of autosomal recessive inheritance of this monogeni c lethal entity, The unknown genetic defect interferes severely with s keletal growth through lack of chondrocyte multiplication and apparent uncoupling of the processes of enchondral ossification and skeletal g rowth. (C) 1996 Wiley-Liss, Inc.