The clinical-genetic particularities in Apert syndrome

Abstract

Background. Apert syndrome (AS) is a dominant autosomal genetic disorder caused by heterogeneous mutation in FGFR2 genes on chromosome 10q26 and belongs to a group of disorders known as craniofacial congenital malformations. AS can promote the premature fusion of bones in the skull, hands, and feet. The incidence of infants born with Apert syndrome is approximately 1 in 50000 to 80000. In this study is emphasized the importance of clinical and genetic approaches in the research on the specific diagnosis in patients with Apert syndrome.