Two sibs with fibrochondrogenesis.

Fibrochondrogenesis is one of the rare lethal osteochondrodysplasias, which show abnormal maturation, and disturbed growth of cartilage and bones. These disorders are a heterogenous group of genetic disorders with a total incidence of 1-3 in 10,000 births. Only 13 cases of fibrochondrogenesis have been published since Lazzaroni-Fossati et al. [1978] first described the disorder. We report on two sibs that occurred in a consanguineous couple and discuss the ultrasonographic, clinical, radiological, and pathological characteristics of this disorder. This occurrence confirms autosomal recessive inheritance of fibrochondrogenesis. Copyright 2004 Wiley-Liss, Inc.