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  • Title: Ocular anomalies in an infant with Klinefelter Syndrome.
    Author: Juhn AT, Nabi NU, Levin AV.
    Journal: Ophthalmic Genet; 2012 Dec; 33(4):232-4. PubMed ID: 22486321.
    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.
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