Oculocerebrocutaneous syndrome.
A female infant was found at birth to have an oculocerebrocutaneous syndrome in which the main clinical features include orbital cyst, cerebral malformations, accessory skin tags, and focal hypoplasia or "punched-out" skin lesions. This case, like the four previously reported, was sporadic.
D001921:Brain / Q000002:abnormalities*; D003560:Cysts / Q000151:congenital*; D005260:Female; D006222:Hamartoma / Q000151:congenital*; D006801:Humans; D007231:Infant, Newborn; D009918:Orbital Neoplasms / Q000151:congenital*; D012868:Skin Abnormalities; D013577:Syndrome