Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification.
We present two sisters with microcephaly, developmental delay, marked microphthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and intracranial calcification. No evidence of intrauterine infection was found. There have been previous reports of microcephaly, intracranial calcification, and an intrauterine infection-like autosomal recessive condition, but the sibs in this report appear to represent a more severe form of such a condition or a previously undescribed entity.
Slee
J
J
Genetic Services of Western Australia, Princess Margaret Hospital for Children, Perth. jennie.slee@health.wa.gov.au
Lam
G
G
Walpole
I
I
D001921:Brain / Q000000981:diagnostic imaging; D001927:Brain Diseases / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000235:genetics*; D008850:Microphthalmos / Q000235:genetics*; D014057:Tomography, X-Ray Computed