Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts

Buyse and Bull (1978) described 3 infant sibs (2 males and a female) who were stillborn or who died within the first hour after birth. The parents were normal and not consanguineous. The clinical findings included microcephaly, bilateral cataracts, and multiple prenatal bone fractures. The brain was small, with poorly developed sulci and gyri. The calvaria was soft, and there was foreshortening and bowing of the lower limbs. Blue sclerae were noted in 2 of the 3 infants.