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Thanatophoric Dysplasia

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Thanatophoric dysplasia was originally described by Maroteaux et al. in 1967. The term “thanatophoric” was coined to mean “death bearing” in Greek. Thanatophoric dysplasia is probably the most common lethal neonatal dwarfism with an estimated incidence of 0.2–0.5 per 10,000 births.

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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. (2015). Thanatophoric Dysplasia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_228-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_228-2

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  • Online ISBN: 978-1-4614-6430-3

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