A CASE OF BONNEAU SYNDROME ASSOCIATED WITH MULTIPLE RENAL CORTICAL CYSTS

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

GENETIC COUNSELING, cilt.20, sa.1, ss.19-25, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 1
  • Basım Tarihi: 2009
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.19-25
  • Anahtar Kelimeler: Bonneau syndrome, Complex cardiac anomalies, Polysyndactyly, Renal cyst
  • Atatürk Üniversitesi Adresli: Evet

Özet

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.