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.
Olgun
H
H
Department of Pediatric Cardiology, Ataturk University School of Medicine, Erzurum, Turkey. drholgun@hotmail.com
Orbak
Z
Z
Tatar
A
A
Sepetcigil
O
O
D000015:Abnormalities, Multiple / Q000473:pathology; D004452:Echocardiography; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging; D011859:Radiography; D013576:Syndactyly / Q000000981:diagnostic imaging; D013577:Syndrome