Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

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

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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