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Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification

✍ Scribed by Slee, Jennie; Lam, Geoffrey; Walpole, Ian

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 21 KB
Volume: 84
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990604)84:4<330::aid-ajmg4>3.0.co;2-w

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✦ Synopsis

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. Am. J. Med. Genet. 84:330-333, 1999.

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