Williams-Beuren Syndrome in a Boy with Klinefelter Syndrome

Williams-Beuren syndrome, now recognized to be caused by a micro deletion of chromosome 7, is a multisystem disorder with mental retardation and characteristic facial features. On the other hand, Klinefelter syndrome (47,XXY) is now appreciated as being the most common single cause of infertility and hypogonadism. We report a boy; 9 years old, from UAE affected by both disorders. The patient had a characteristic dysmorphic facies, mental retardation, cardiovascular affection and dental anomalies together with relatively small penis and testes. The diagnosis was established and confirmed through chromosomal study and FISH analysis.