Osteopenia And Sparse Hair

Kaler et al. (1992) described 2 Mennonite sisters with a syndrome of sparse hair, osteopenia, mental retardation, minor facial abnormalities, joint laxity, and hypotonia. Their asymptomatic consanguineous parents had 6 other offspring, 3 of whom died in infancy of type II osteogenesis imperfecta and 3 of whom were normal. No abnormality was detected in the collagen synthesized by cultured fibroblasts from these 2 sisters or their parents. Kaler et al. (1992) concluded that their disorder is a new autosomal recessive syndrome distinct from type II OI (166210). The family was derived from a 300-member Mennonite community in southern Maryland. They pictured 1 of the 3 sibs who died at the age of 7 weeks of a condition diagnosed as OI on clinical and radiographic grounds.