A new case of oculoectodermal syndrome.
An 11-month-old infant girl presented with right-sided features of aplasia cutis congenita of the scalp, unilateral epibulbar dermoids, eccentric pupil, coloboma of the right upper eyelid, and depigmentation of the fundus surrounding the right optic nerve. These findings were similar to the oculoectodermal syndrome reported by other clinicians and researchers.
Lee
Thomas K M
TK
Department of Ophthalmology, University of Alberta, Edmonton, Canada.
Johnson
Royce L C
RL
MacDonald
Ian M
IM
Krol
Alfons L
AL
Bamforth
J Stephen
JS
D003103:Coloboma / Q000235:genetics*; D003884:Dermoid Cyst / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005134:Eye Neoplasms / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D011681:Pupil Disorders / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome