Cerebro-oculo-facio-skeletal syndrome.
A three-month-old infant was referred with bilateral corneal opacities and microphthalmos. Pediatric examination as well as genetics consultation resulted in a diagnosis of the cerebro-oculo-facio-skeletal syndrome and should be included in the differential diagnosis of congenital cloudy corneas.
D000015:Abnormalities, Multiple; D003025:Clubfoot; D003318:Corneal Opacity / Q000601:surgery; D016039:Corneal Transplantation; D005260:Female; D006618:Hip Dislocation, Congenital; D006801:Humans; D007231:Infant, Newborn; D008850:Microphthalmos