Ocular, cerebral and cutaneous malformations: confirmation of an association.
A newborn with multiple congenital abnormalities including an orbital cyst, cerebral cysts, skin tags and focal dermal defects is described. This case is similar to two patients reported by Delleman & Oorthuys in 1981 under the designation "Oculo-cerebro-cutaneous syndrome." Features common to other syndromes are discussed and additional cases with some similarities are also presented. The occurrence of this process in a new population and the cited variability helps confirm and define this association.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities*; D002526:Cerebellar Diseases / Q000151:congenital; D003560:Cysts / Q000151:congenital; D005124:Eye Abnormalities; D005128:Eye Diseases / Q000151:congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012868:Skin Abnormalities; D013577:Syndrome; D014057:Tomography, X-Ray Computed