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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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
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