Williams syndrome

Elaine Maria Pereira; Robert William Marion; Barbara Rose Pober

doi:10.1007/978-3-319-18096-0_67

Williams syndrome

Elaine Maria Pereira, Robert William Marion, Barbara Rose Pober

Pediatrics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

2 Scopus citations

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.

Original language	English (US)
Title of host publication	Health Care for People with Intellectual and Developmental Disabilities Across the Lifespan
Publisher	Springer International Publishing
Pages	799-814
Number of pages	16
ISBN (Electronic)	9783319180960
ISBN (Print)	9783319180953
DOIs	https://doi.org/10.1007/978-3-319-18096-0_67
State	Published - Jan 1 2016

ASJC Scopus subject areas

General Medicine
General Social Sciences
General Psychology

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10.1007/978-3-319-18096-0_67

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AU - Pober, Barbara Rose

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AB - 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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Williams syndrome

Abstract

ASJC Scopus subject areas

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