The Turkish Journal of Pediatrics 2013 , Vol 55 , Num 5
The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation
Departments of 1Pediatric Genetics, 2Medical Genetics, and 3Medical Biology and Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey. E-mail: Multiple pterygium syndrome is characterized by a number of phenotypic features, small stature, webbing of the neck, elbows, and/or knees, and joint contractures. In this report, we present an 11-year-old boy who had the classical findings of multiple pterygium syndrome, and his chromosomal analysis revealed a 47,XXY karyotype. Interestingly, he did not show any of the main clinical signs of Klinefelter syndrome. This patient appears to be the first reported case in the literature in which a non-mosaic 47,XXY karyotype has been found in a patient with multiple pterygium syndrome. The aim of the present report is to describe a non-classic Klinefelter syndrome associated with multiple pterygium syndrome and to emphasize the importance of karyotype analysis in patients with multiple pterygium syndrome. Keywords : Klinefelter syndrome, multiple pterygium syndrome, karyotype analysis, short stature.
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