Further evidence for a syndrome of "apple peel" intestinal atresia, ocular anomalies and microcephaly.
We report on a male child with "apple peel" atresia, associated with microcephaly, with subsequent hydrocephalus, short stature, moderate global developmental delay and ocular abnormalities. A similar phenotype was previously reported by Stromme et al. in 1993 in female siblings, and this description of another affected individual provides further evidence for this being a distinct syndromic entity.
Slee
J
J
Genetic Services of Western Australia, Princess Margaret Hospital for Children, Perth, Western Australia.
Goldblatt
J
J
D000015:Abnormalities, Multiple; D002648:Child; D005124:Eye Abnormalities; D006801:Humans; D007409:Intestinal Atresia; D007583:Jejunum / Q000002:abnormalities*; D008297:Male; D008831:Microcephaly; D013577:Syndrome