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Crouzon Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1912, Crouzon described the hereditary syndrome of craniofacial dysostosis in a mother and son (Crouzon 1912). He described the triad of calvarial deformities, facial anomalies, and exophthalmos. Crouzon syndrome is characterized by premature closure of calvarial and cranial base sutures as well as those of the orbit and maxillary complex (craniosynostosis). Other clinical features include hypertelorism, exophthalmos, strabismus, beaked nose, short upper lip, hypoplastic maxilla, and relative mandibular prognathism. Prevalence is 1 per 60,000 (approximately 16.5 per 1,000,000) live births (Cohen and Kreiborg 1992). Crouzon syndrome makes up approximately 4.8% of all cases of craniosynostosis.

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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Chen, H. (2017). Crouzon Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_61

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_61

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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