The key role of ultrasound examination in the prenatal diagnosis of epidermolysis bullosa with pyloric atresia
✍ Scribed by Maurice, Paul; Eyrolle-Guignot, Dominique; Dhombres, Ferdinand; Garel, Catherine; Gonzales, Marie; Muller, Françoise; Jouannic, Jean-Marie
- Book ID
- 121693137
- Publisher
- John Wiley and Sons
- Year
- 2013
- Tongue
- English
- Weight
- 254 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0197-3851
- DOI
- 10.1002/pd.4137
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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
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