FURTHER EVIDENCE FOR A SYNDROME OF APPLE PEEL INTESTINAL ATRESIA, OCULAR ANOMALIES AND MICROCEPHALY

Citation
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
Citations number
13
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
50
Issue
4
Year of publication
1996
Pages
260 - 262
Database
ISI
SICI code
0009-9163(1996)50:4<260:FEFASO>2.0.ZU;2-Q
Abstract
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.