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Ellis-van Creveld Syndrome

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Atlas of Genetic Diagnosis and Counseling

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, Shreveport, LA, 71130, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2015). Ellis-van Creveld Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_79-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_79-2

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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