Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly
✍ Scribed by Petter Strømme; Eilif Dahl; Tor Flage; Helge Stene-Johansen
- Book ID
- 115091428
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 348 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0009-9163
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## Abstract We describe another patient with the combination of apple peel intestinal atresia, microcephaly, microphthalmia, and anterior eye chamber anomalies. Development so far seems to be normal, although there is major visual impairment due to the corneal clouding. Mutation analysis of the __P
Apple peel intestinal atresia is an applepeel-appearing bowel obstruction of unknown cause. We describe a Japanese girl with the apple-peel jejunal atresia associated with apparently balanced reciprocal translocation between chromosomes 2 and 3, t(2;3)(q31.3;p24.2)mat. The translocation breakpoints