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.
