Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Definition
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterized by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.