Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia - Casereport and review

We report a female stillborn with typical clinical, radiological, and anato mopathological features of Blomstrand chondrodysplasia. The main findings i n this lethal osteochondrodysplasia are osteosclerosis and advanced skeleta l maturation. Autosomal recessive inheritance has been proposed because of parental consanguinity of affected siblings in all reported cases, includin g this one. Histopathological study of the bones confirmed the advanced ske letal maturation radiological features. We also review this rare lethal ost eochondrodysplasia.