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Ellis-van Creveld Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1940, Ellis and van Creveld (Ellis and Creveld 1940) described a syndrome, characterized by ectodermal dysplasia, polydactyly, chondrodysplasia, and congenital heart disease. Ellis-van Creveld syndrome, also called chondroectodermal dysplasia, is relatively common in inbred communities, such as the Amish of Lancaster County where it occurs in 1/5,000 births compared to 1/60,000 births in the general population.

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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). Ellis-van Creveld Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_79

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_79

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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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