Ocular anomalies in an infant with Klinefelter Syndrome.

Ophthalmic Genet

Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA.

Published: December 2012

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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Source
http://dx.doi.org/10.3109/13816810.2012.670361DOI Listing

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