The cerebro-oculo-facio-skeletal syndrome.
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.
D000328:Adult; D002386:Cataract / Q000150:complications*; D002675:Child, Preschool; D003241:Consanguinity; D005143:Eyelids / Q000002:abnormalities; D005145:Face; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007738:Kyphosis / Q000150:complications; D008297:Male; D008831:Microcephaly / Q000150:complications*; D008844:Micrognathism / Q000150:complications; D008850:Microphthalmos / Q000150:complications*; D010375:Pedigree; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities