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

Abstract

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.

• Authors: Banu Güzel Nur, Ozden Altıok-Clark, Aslı Toylu, Güven Lüleci, Ercan Mıhçı
• Journal: The Turkish journal of pediatrics (Turk J Pediatr) Vol. 55 Issue 5 Pg. 559-63 ( 2013) ISSN: 2791-6421 [Electronic] Turkey
• PMID: 24382544 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Child
• Humans
• Karyotyping
• Klinefelter Syndrome (complications)
• Male
• Malignant Hyperthermia (complications, genetics)
• Skin Abnormalities (complications, genetics)