The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation
TURKISH JOURNAL OF PEDIATRICS, cilt.55, sa.5, ss.559-563, 2013 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 55 Sayı: 5
- Basım Tarihi: 2013
- Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.559-563
- Anahtar Kelimeler: Klinefelter syndrome, multiple pterygium syndrome, karyotype analysis, short stature, GROWTH
- Akdeniz Üniversitesi Adresli: Evet
Özet
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.