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Congenital pyloric atresia and junctional epidermolysis bullosa: a report of two cases

✍ 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

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## 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