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Eur J Pediatr. 2009 Jul;168(7):881-3. doi: 10.1007/s00431-008-0852-5. Epub 2008 Oct 16.

Possible association of Down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature.

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Institute of Human Genetics, University of Bonn, Bonn, Germany.


In the past, several midline defects have been associated with Down syndrome (DS) on a regular basis, e.g. heart defects, cleft lip and palate, neural tube defects, omphalocele and anal atresia. The exstrophy-epispadias complex (EEC) represents a rare midline defect, rarely described in association with DS. Here, we report on the co-occurrence of DS and EEC in two, so far, unreported cases and present a review of the literature. We suggest that EEC represents a rare but inherent part in the spectrum of DS-associated midline defects.

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