| Literature DB >> 7355980 |
W S Grizzard, J J O'Donnell, J C Carey.
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.Entities:
Mesh：
Year: 1980 PMID： 7355980 DOI： 10.1016/0002-9394(80)90127-0
Source DB: PubMed Journal: Am J Ophthalmol ISSN： 0002-9394 Impact factor: 5.258