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Jarcho-Levin Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1938, Jarcho and Levin (1938) first described a syndrome of malformations with abnormal fusion of thoracic vertebrae and ribs associated with a short trunk and respiratory insufficiency. At present, Jarcho-Levin syndrome is an eponym used to describe a variety of clinical phenotypes, consisting of short-trunk dwarfism associated with rib and vertebral anomalies. Two phenotypic subtypes of spondylothoracic dysostosis and spondylocostal dysostosis have recently been proposed.

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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). Jarcho-Levin Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_136-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_136-2

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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