Boy uzunluğunun nadir bir nedeni: Sotos sendromu
作者： Nagehan Aslan
DOI: 10.5798/DICLEMEDJ.0921.2014.04.0516
关键词:
摘要: Sotos sendromu, makrosefali, tipik yuz gorunumu ve mental gerilik ile karakterize bir asiri buyume sendromudur. Olgularin cogu sporadik olup, otozomal dominant kalitim modeline uyan aileler bildirilmistir. Sendromdan sorumlu gen nukleer reseptor baglayici SET domain1 (NSD1) proteinini kodlar. Bu nadir genetik sendrom ilk olarak 1964 yilinda, boy uzunlugu, akromegalik gorunum, ilimli retardasyonu bulunan bes vakada arkadaslari tarafindan tanimlanmistir. Yuksek alin sac cizgisi, frontal bossing, uzun ince gorunumu, fronto-temporal bolgede seyrekligi, asagi cekik palpebral fissurler belirgin mandibula karakteristik gorunumunu olusturur ileri kemik yasi degisik derecelerde diger tani kriterleridir. Kardiyovaskuler, santral sinir sitemi genitouriner sistem anomaliler eslik edebilir. Biz bu olgu sunumunda klinigimize hizli hafif retardasyon nedeniyle basvuran sendromu tanisi alan olguyu sunarak izleminin onemini vurgulamayi amacladik.
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