Title of article
Williams-Beuren Syndrome in a Boy with Klinefelter Syndrome
Author/Authors
Al-hosani, Hager Ministry of Health - Central Department of Maternal and Child Health, United Arab Emirates , Salah, Mohammed Ministry of Health - Central Department of Maternal and Child Health, United Arab Emirates , Kamal, Tarek M National Screening Program, MCH, Ministry of health, United Arab Emirates , Farag, Hanan M National Screening Program, MCH, Ministry of health, United Arab Emirates , Desoki, Osama M National Screening Program, MCH, Ministry of health, United Arab Emirates , Namer, Sana National Screening Program, MCH, Ministry of health, United Arab Emirates , Swidan, Khawla National Screening Program, MCH, Ministry of health, United Arab Emirates , Hamed, Manal National Screening Program, MCH, Ministry of health, United Arab Emirates
From page
97
To page
103
Abstract
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.
Keywords
Williams , Beuren syndrome , klinefelter syndrome , microdeletion , mental retardation , hypogonadism
Journal title
The Egyptian Journal of Neurosurgery
Journal title
The Egyptian Journal of Neurosurgery
Record number
2549339
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