Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification

We present two sisters with microcephaly, developmental delay, marked micro phthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and in tracranial calcification. No evidence of intrauterine infection was found. There have been previous reports of microcephaly, intracranial calcificatio n, and an intrauterine infection-like autosomal recessive condition, but th e sibs in this report appear to represent a more severe form of such a cond ition or a previously undescribed entity. (C) 1999 Wiley-Liss, Inc.