Noonan Syndrome Eye Signs: A Case Report
Yazarlar (1)
Prof. Dr. Ali GÜNEŞ Kırşehir Ahi Evran Üniversitesi, Türkiye
| Makale Türü |
Özgün Makale
(Uluslararası alan indekslerindeki dergilerde yayınlanan tam makale)
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| Dergi Adı | Medical Journal of Islamic World Academy of Sciences | ||
| Makale Dili | – | Basım Tarihi | 01-2017 |
| Cilt / Sayı / Sayfa | 25 / 2 / 57–60 | DOI | – |
| Makale Linki | https://jag.journalagent.com/ias/pdfs/IAS_25_2_57_60.pdf | ||
| UAK Araştırma Alanları |
Çocuk Sağlığı ve Hastalıkları (Çocuk Sağlığı ve Hastalıkları)
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| Özet |
| Noonan 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. |
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