Abstract
Apert syndrome is named after the French physician who described the syndrome acrocephalosyndactylia in 1906. Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet. It probably is the most familiar and best-described type of acrocephalosyndactyly. Prevalence is estimated at 1 in 65,000 (approximately 15.5 in 1,000,000) live births (Cohen et al. 1992; Cohen and Kreiborg 1992, 1993a). Apert syndrome accounts for 4.5 % of all cases of craniosynostosis.
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Chen, H. (2015). Apert Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_14-2
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DOI: https://doi.org/10.1007/978-1-4614-6430-3_14-2
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