Serdar KARATOPRAK, Emine YAŞAR, İbrahim TEKEDERELİ

PTPN11 Gen Mutasyonu: Noonan Sendrom’lu Bir Olgu

Noonan Sendromu, boy kısalığı, düşük arka saç çizgisi, yele boyun, göğüs duvarı deformiteleri, koagülasyon ve konjenital kalp defektleri ile karakterize ender bir genetik hastalıktır. Benzer klinik bulgular nedeniyle toplumda daha sık olarak karşılaşılan Turner sendromu ile karıştırılmaktadır. Bu çalışmada boy kısalığı nedeni ile kliniğimize başvuran 17 yaşında Noonan Sendromu tanısı alan bir olgu sunulmuştur

Anahtar Kelimeler:

Noonan sendromu, PTPN11 mutasyonu, Kısa boy sendromu

PTPN11 Gene Mutation: A Casewithnoonan Syndrome

Noonan syndrome is rare genetic disorder characterized with sort stature, low posterior hairline, webbed neck, chest wall deformities, coagulation and congenital heart defects. Because of similar clinical findings, Noonan syndrome is often misdiagnosed as Turner syndrome which is more common in population. In this study, a 17 years old patient who was admitted to our clinic with short stature and diagnosed Noonan syndrome is presented

Keywords:

Noonan syndrome, PTPN11 mutation, Short Stature Syndromes,

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