. 2017; 25(2): 57-60 | DOI: 10.5505/ias.2017.95815 | |||
Noonan Syndrome Eye Signs: A Case ReportTaha AyyıldızDepartment of Ophthalmology, Ahi Evran University, Kırşehir, TurkeyNoonan syndrome (NS) is a rare autosomal dominant inherited disease characterized by short stature, facial abnormalities, congenital heart defects, and urogenital malformations. It is important to know that eye signs are more frequent in patients and usually occur as hypertelorism, downward-sloping palpebral fissures, epicentral folds, ptosis, fracture defects, strabismus, amblyopia, nystagmus, coloboma, keratoconus, and, rarely, cataracts. A 14-year-old male patient suspected of having NS due to inferior pectus excavatum and diagnosed with NS on genetic evaluation was referred to the clinic to evaluate the ocular findings obtained from the ophthalmic examination. Taha Ayyıldız. Noonan Syndrome Eye Signs: A Case Report. . 2017; 25(2): 57-60 Sorumlu Yazar: Taha Ayyıldız, Türkiye |
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