Abstract
The clinical, laboratory, histologic and autopsy findings are reported from a live-born male infant with severe congenital skin defects (CSD) who survived for 2 days. The family history revealed consanguinity of the (Turkish) parents. The patient was compared with 10 cases from the literature with the most severe form of CSD. The combination of severe CSD, parental consanguinity and gastrointestinal atresia was found in 3 of these 11 cases, including our own patient. Differentiation from an atypical form of epidermolysis bullosa, complicated by pyloric atresia, is difficult. The mechanism of the (prenatally detected) elevated amniotic fluid alpha 1-fetoprotein (AFP) level is discussed. The finding of a balanced 13q14q chromosome translocation in the infant and his mother is considered a coincidence.
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