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Introduction Apert syndrome (MIM 101200), first described by a French physician Eugene Apert in 1906 (DeGiovanni et al., 2007), is a rare autosomal dominant acrocephalosyndactyly syndrome type 1 with a… Click to show full abstract
Introduction Apert syndrome (MIM 101200), first described by a French physician Eugene Apert in 1906 (DeGiovanni et al., 2007), is a rare autosomal dominant acrocephalosyndactyly syndrome type 1 with a birth prevalence of one in 64 500 live births, with males and females being affected equally (Cohen and Kreiborg, 1992). It is characterized by craniosynostosis, midface hypoplasia, and complex syndactyly of the hands and feet. It is linked to mutations in fibroblast growth factor receptor 2 (FGFR2) on chromosome 10q26 (Wilkie et al., 1995).
Journal Title: Clinical Dysmorphology
Year Published: 2019
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