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Med J Bakirkoy. 2013; 9(2): 81-84


Apert syndrome: case report

Ali Karaman, Hasan Kahveci.

Abstract
Apert syndrome is a rare autosomal dominant genetic disorder characterized by irregular craniosynostosis, symmetric syndactylia of hands and feet, mid-line hypoplasia, and coronal synostosis, hypertelorism, anomalies of central nervous system, heart and kidneys. In this paper, we reported a 10 day-old new born who was hospitalized because of respiratory distress. He was diagnosed as Apert syndrome with the typical features of coronal synostosis, hyperteleorism, symmetric syndactyly of hands and feet and corpus callosum hypoplasia.

Key words: Apert syndrome, cranialsinositosis, syndactily



Apert sendromu: Olgu sunumu

Özet
Apert sendromu düzensiz kraniosinostozis, el-ayaklarda simetrik sindaktili ve orta hat hipoplazisi ile koronal sinositozis, hiperteleorizm, santral sinir sistemi, kalp ve böbrek anomalileri ile karakterize otozomal dominant geçişli nadir bir bozukluktur. Bu yazıda solunum sıkıntısına bağlı hastanemize yatırılan 10 günlük bir yenidoğanı sunduk. Vakaya hastalığın tipik bulgularından; kraniyal sinositoz, hipertelorizm, el ve ayaklarda simetrik sindaktili ve korpus kallozum hipoplazisi olması nedeniyle Apert sendromu tanısı konulmuştur.

Anahtar Kelimeler: Apert sendromu, kranialsinositozis, sindaktili



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