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: emihci@akdeniz.edu.tr
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.