Maternales Ehlers-Danlos Syndrom Typ II und fetale Duodenalatresie Grad II: Erstbeschreibung

Abstract

A double-bubble sign was detected by ultrasonography in a GII, PII, who suffers from Ehlers-Danlos syndrome type II. The delivery was done by Caesarean section based on the suspicion of premature placental separation. Postnatally, the child was found to have duodenal atresia caused by an annular pancreas. These features have not been described in EDS so far. Molecular genetic analysis showed a novel COL5A1 splice mutation in the mother, which is responsible for the EDS phenotype. The mutation is absent in the male newborn. Therefore, we assume that maternal EDS and the malformation of the child are not related.