Apple peel atresia in association with bilateral colobomatous malformation of the optic nerve heads, dysmorphic features, and learning disability - a new syndrome?
Apple peel atresia of the small bowel is a rare congenital cause of intestinal obstruction. This case report describes a male patient with apple peel atresia and bilateral colobomatous malformation of the optic nerve heads in association with dysmorphic features and learning disabilities. In the absence of a positive family history, we propose that this collection of clinical findings could be due to a new dominant mutation or chromosomal microdeletion.
Waters
F M
FM
Department of Ophthalmology, Manchester Royal Eye Hospital, Manchester, England.
Lloyd
I C
IC
Clayton-Smith
J
J
D002648:Child; D003103:Coloboma / Q000150:complications* / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007409:Intestinal Atresia / Q000150:complications* / Q000473:pathology; D007859:Learning Disabilities / Q000150:complications* / Q000473:pathology; D008297:Male; D009898:Optic Disk / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome