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Am J Ophthalmol. 1980 Feb;89(2):293-8.

The cerebro-oculo-facio-skeletal syndrome.

Abstract

A 3 1/2-month-old boy with the cerebro-oculo-facio-skeletal syndrome had low birth weight, microcephaly, microphthalmia, cataracts, blepharophimosis, high nasal bridge, micrognathia, kyphosis, rocker-bottom feet, and a longitudinal foot groove. The product of a consanguineous parentage, he showed marked developmental retardation, suggesting abnormal recessive inheritance.

PMID:
7355980
[PubMed - indexed for MEDLINE]
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