Juhn Alexander T, Nabi Naeem U, Levin Alex V
Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Ophthalmic Genet. 2012 Dec;33(4):232-4. doi: 10.3109/13816810.2012.670361. Epub 2012 Apr 9.
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.
克兰费尔特综合征是由患病男性体内存在一条或多条额外的X染色体引起的。患者常表现出乳腺增生、睾丸小和不育。尽管克兰费尔特综合征的特征已有充分记录，但相关的眼部异常仅偶尔有报道。在此，我们报告一名患有克兰费尔特综合征的2个月大婴儿，其具有包括小眼症、白内障和瞳孔畸形在内的独特眼部异常组合。
