Oculocerebral hypopigmentation syndrome (Cross syndrome) in a Gipsy child.
A boy aged 2 years, born prematurely to Gipsy parents, presented with hypopigmentation severe encephalopathy with athetoid movements, bilateral ocular anomalies including cloudy corneas, iris atrophy and cataracts, as well as dental defects. Ultrastructural examination of the skin disclosed scare melanosomes. Although the neurologic and ocular anomalies might have been accounted for by his extreme prematurity, their association with hypomelanogenesis and dental defects support, in this patient the diagnosis of the oculocerebral hypopigmentation syndrome (Cross syndrome).
Courtens
W
W
Department of Paediatrics, University Hospital, St. Peter, Brussels, Belgium.
Broeckx
W
W
Ledoux
M
M
Vamosa
E
E
D000417:Albinism / Q000175:diagnosis*; D002386:Cataract / Q000175:diagnosis*; D002675:Child, Preschool; D003744:Dental Enamel Hypoplasia / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D012867:Skin / Q000473:pathology; D013577:Syndrome