A CASE OF BONNEAU SYNDROME ASSOCIATED WITH MULTIPLE RENAL CORTICAL CYSTS


OLGUN H. , ORBAK Z. , TATAR A. , SEPETCİGİL O.

GENETIC COUNSELING, vol.20, no.1, pp.19-25, 2009 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 1
  • Publication Date: 2009
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.19-25

Abstract

A case of Bonneau syndrome associated with multiple renal cortical cysts: We describe a 2-month-old girl with congenital anomalies including facial anomalies. complex cardiac anomalies, polysyndactyly, dysgenesis of distal extremities and bilateral multiple renal cysts. The proband was the child of first-cousin parents. Clinical synopsis in Bonneau syndrome (OMIM: 263630) is polysyndactyly and cardiac malformation. In addition, liver anomalies were reported in two patients. We discuss polysyndactyly and cardiac malformation with bilateral multiple renal cysts, a combination not reported previously.