Apert Sendromu: Olgu Sunumu Ve Literatürün Gözden Geçirilmesi

Abstract

Apert Syndrome: A Case Report and Review of the Literature The prevalence of Apert syndrome is approximately 15.5 in bir million births. The principal features are craniosynostosis, midfacial hypoplasia, syndactyly of the hands and feet with mild, moderate or severe mental retardation. Inheritance is usually autosomal dominant. However most cases represent new mutations. Prenatal diagnosis has been mainly based on sonographic documentation of craniosynostosis and syndactly. A newborn with Apert syn d rom e is presented and related literature was reviewed in this paper. Apert sendromu prevelansı bir milyon doğumda 15.5 olup nadir görülen bir hastalıktır. Kra-niyosinostoz, yüzün orta kısmında hipoplazi, el ve ayaklarda simetrik sindaktili ve hafiften ağıra kadar değişen derecelerde mental retardasyonla karakterizedir. Kalıtım şekli otozomal dominant olmakla birlikte olguların çoğunu yeni mutasyonlar oluşturur. Prenatal tanı temel olarak ultrasonografi ile kraniosinostoz ve sindaktilinin gösterilmesi ile konur. Bu yazıda Apert sendromu tanısı alan bir yenidoğan olgusu sunulmuş, ilgili literatür gözden geçirilmiştir.

Keywords

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