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Frontonasal Dysplasia

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Frontonasal dysplasia is a developmental field defect of craniofacial region characterized by hypertelorism and varying degrees of median nasal clefting. In 1967, DeMeyer first described the malformation complex “median cleft face syndrome” to emphasize the key midface defects. Since then, several terms have been introduced: frontonasal dysplasia, frontonasal syndrome, frontonasal dysostosis, and craniofrontonasal dysplasia (currently recognized as a syndrome distinct from frontonasal dysplasia) (Dubey and Garap 2000).

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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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  1. Harold Chen
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Chen, H. (2017). Frontonasal Dysplasia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_100

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_100

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  • Print ISBN: 978-1-4939-2400-4

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