Congenital pyloric atresia and junctional epidermolysis bullosa: a report of two cases
β Scribed by Akhter Nawaz; Hilal Matta; Alic Jacobsz; Ahmed Al-Salem
- Publisher
- Springer-Verlag
- Year
- 2000
- Tongue
- English
- Weight
- 100 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0179-0358
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Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, wh
## Abstract We report on the prenatal diagnosis of epidermolysis bullosa letalis with pyloric atresia in a pregnancy not known to be at risk for this condition. Elevated maternal serum alphafetoprotien levels led to ultrasonography which demonstrated gastric dilatation, consistent with pyloric atre