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Case Report

BTDMJB. 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



Article Language: Turkish English



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