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Joubert Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1969, Joubert et al. (1969) first documented three brothers and one sister who had episodic hyperpnea, abnormal eye movements, ataxia, mental retardation, and cerebellar vermian hypoplasia and aplasia. Later in 1977, Boltshauser and Isler (1977) reported three more cases with variable degrees of clinical symptoms and suggested the syndrome be called Joubert syndrome.

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Authors and Affiliations

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

    Harold Chen

  2. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, 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). Joubert Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_137-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_137-2

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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