Article
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.
Prenatal diagnosis - 1 Jan 2000
Lépinard C, Descamps P, Meneguzzi G, Blanchet-Bardon C, Germain D P, Larget-Piet L, Beringue F, Berchel C, Muller F, Dumez Y
Abstract excerpt
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, who had undergone amniocentesis for polyhydramnios. The karyotype was normal but the amniotic fluid contained...
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