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

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


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Bladder Exstrophy / complications*
  • Dandy-Walker Syndrome / complications*
  • Down Syndrome / complications*
  • Epispadias / complications*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male