Case report: two patients with oculocerebrocutaneous syndrome and terminal digital amputations.
We report 2 cases of patients with a rare multiple anomaly condition reported as Dellman (oculocerebrocutaneous) syndrome. In this article we discuss the clinical features and genetics of this condition. Notably, both of these patients have digital abnormalities which have not been previously described in the literature.
Asher
Nathan G
NG
Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.
Olney
Ann H
AH
Schaefer
G Bradley
GB
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000473:pathology*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome