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Dysmelia

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Dysmelia is a widely accepted term used to define a group of malformations in which there is hypoplasia, and partial or total aplasia of the tubular bones of the extremities, ranging from isolated peripheral hypoplasia to complete loss of the extremity. The condition is commonly known as limb deficiency or limb reduction defect. The prevalence rate for all types of limb deficiency is 0.69 per 1,000 (McGuirk et al. 2001).

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, 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. (2016). Dysmelia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_73-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_73-2

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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