A CASE OF BONNEAU SYNDROME ASSOCIATED WITH MULTIPLE RENAL CORTICAL CYSTS
GENETIC COUNSELING, cilt.20, sa.1, ss.19-25, 2009 (SCI-Expanded, Scopus)
- 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.