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.