title: 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.affiliation: Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey. emihci@akdeniz.edu.tr.
authors.forename: Banu Güzel
authors.initials: BG
authors.lastname: Nur
authors.forename: Ozden
authors.initials: O
authors.lastname: Altıok-Clark
authors.forename: Aslı
authors.initials: A
authors.lastname: Toylu
authors.forename: Güven
authors.initials: G
authors.lastname: Lüleci
authors.forename: Ercan
authors.initials: E
authors.lastname: Mıhçı
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications*; D008297:Male; D008305:Malignant Hyperthermia / Q000150:complications* / Q000235:genetics; D012868:Skin Abnormalities / Q000150:complications* / Q000235:genetics