J. Slee et J. Goldblatt, FURTHER EVIDENCE FOR A SYNDROME OF APPLE PEEL INTESTINAL ATRESIA, OCULAR ANOMALIES AND MICROCEPHALY, Clinical genetics, 50(4), 1996, pp. 260-262
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 phenoty
pe was previously reported by Stromme et al. in 1993 in female sibling
s, and this description of another affected individual provides furthe
r evidence for this being a distinct syndromic entity.