The cerebro-oculo-facio-skeletal syndrome
- PMID: 7355980
- DOI: 10.1016/0002-9394(80)90127-0
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.
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