The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation

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Nur B., Altıok-Clark O., Toylu A., Lulecı G., Mıhçı E.

TURKISH JOURNAL OF PEDIATRICS, cilt.55, sa.5, ss.559-563, 2013 (SCI-Expanded) identifier identifier identifier

  • 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.