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Williams Syndrome

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Health Care for People with Intellectual and Developmental Disabilities across the Lifespan

Abstract

Williams syndrome (WS) is an autosomal disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. An individual with WS can have a characteristic constellation of problems which include, but are not limited to, distinctive facial features, cardiovascular abnormalities, hypercalcemia, delays in both growth and development, and other associated anomalies. A unique cognitive-linguistic profile and behavioral phenotype are also characteristically seen in individuals with this disorder. In this chapter we review the clinical features and management of WS.

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Author information

Authors and Affiliations

  1. Department of Pediatrics, Division of Genetic Medicine, Children’s Hospital at Montefiore, Montefiore Medical Center, 3415 Bainbridge Avenue, Bronx, NY, 10467, USA

    Elaine Maria Pereira M.D.

  2. Department of Pediatrics, Division of Genetic Medicine, Children’s Hospital at Montefiore, Albert Einstein College of Medicine, 3415 Bainbridge Avenue, Bronx, NY, 10467, USA

    Robert William Marion M.D.

  3. Department of Medical Sciences, The Frank H Netter School of Medicine, Quinnipiac University, 370 Bassett Road, North Haven, CT, 06473, USA

    Barbara Rose Pober M.D.

  4. Department of Pediatrics, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA

    Barbara Rose Pober M.D.

Authors
  1. Elaine Maria Pereira M.D.
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  2. Robert William Marion M.D.
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  3. Barbara Rose Pober M.D.
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Corresponding author

Correspondence to Barbara Rose Pober M.D. .

Editor information

Editors and Affiliations

  1. Innovative Solutions for Disadvantage and Disability and Department of Pediatrics, Morehouse School of Medicine, Atlanta, GA, USA

    I. Leslie Rubin

  2. National Institute of Child Health and Human Development and Medical Services, Division for Developmental and Developmental Disabilities, Ministry of Social Affairs and Social Services, Jerusalem, Israel

    Joav Merrick

  3. Department of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker MD School of Medicine, Western Michigan University, Kalamazoo, MI, USA

    Donald E. Greydanus  & Dilip R. Patel  & 

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© 2016 Springer International Publishing Switzerland

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Pereira, E.M., Marion, R.W., Pober, B.R. (2016). Williams Syndrome. In: Rubin, I.L., Merrick, J., Greydanus, D.E., Patel, D.R. (eds) Health Care for People with Intellectual and Developmental Disabilities across the Lifespan. Springer, Cham. https://doi.org/10.1007/978-3-319-18096-0_67

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  • DOI: https://doi.org/10.1007/978-3-319-18096-0_67

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-18095-3

  • Online ISBN: 978-3-319-18096-0

  • eBook Packages: MedicineMedicine (R0)

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