title: Ocular anomalies in an infant with Klinefelter Syndrome.
abstract: Klinefelter syndrome is caused by the presence of one or more additional X chromosomes in an affected male. Patients often exhibit gynecomastia, small testes, and infertility. Though the characteristics of Klinefelter have been well-documented, associated ocular abnormalities have been only occasionally reported. Here we present a 2-month-old infant with Klinefelter syndrome and a unique combination of ocular abnormalities including microphthalmia, cataracts, and malformed pupils.
authors.affiliation: Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA.
authors.forename: Alexander T
authors.initials: AT
authors.lastname: Juhn
authors.forename: Naeem U
authors.initials: NU
authors.lastname: Nabi
authors.forename: Alex V
authors.initials: AV
authors.lastname: Levin
mesh_terms: D002386:Cataract / Q000209:etiology*; D002387:Cataract Extraction; D005124:Eye Abnormalities / Q000209:etiology; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities* / Q000601:surgery; D007713:Klinefelter Syndrome / Q000150:complications*; D008297:Male; D008850:Microphthalmos / Q000209:etiology*; D014821:Vitrectomy