Oculo-cerebro-cutaneous syndrome: description of a new case.
A newborn girl is described with the following multiple congenital anomalies: an orbital cyst, cutaneous appendages, focal hypo-aplasia of the skin and multiple cerebral cysts. This case of oculo-cerebro-cutaneous syndrome is compared with four previously published cases.
Giorgi
P L
PL
Department of Paediatrics, University of Ancona, Salesi Hospital, Italy.
Gabrielli
O
O
Catassi
C
C
Coppa
G V
GV
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities*; D003560:Cysts / Q000151:congenital*; D004476:Ectodermal Dysplasia / Q000175:diagnosis*; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D009916:Orbital Diseases / Q000151:congenital*; D013577:Syndrome; D014057:Tomography, X-Ray Computed