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WILLIAMS SYNDROME

--------- THE RECENT LITERATURE

web contact: pietsch@indiana.edu

A literature search at Indiana University, Bloomington, Indiana

What NORD (National Organization for Rare Disorders) has to say:
Williams Syndrome, also known as Williams-Beuren Syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, varying levels of mental deficiency, and distinctive facial abnormalities that typically become more pronounced with age. Characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nostrils that flare forward (anteverted nares). Affected individuals may also have unusually short eyelid folds (palpebral fissures), flared eyebrows, a small lower jaw (mandible), and prominent ears. Dental abnormalities may also be present including abnormally small, underdeveloped teeth (hypodontia) with small, slender roots.

Here's what Medline's thesauris says:

Williams Syndrome: A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23, encompassing the ELASTIN gene. Clinical manifestations include supravalvular aortic stenosis, mental retardation, elfin facies, impaired visuospatial constructive abilities, and transient hypercalcemia in infancy. The condition affects both sexes, with onset at birth or in early infancy.

For layperson's descriptions click here!


The following items were compiled from MEDLINE by SilverPlatter and are presented with their cooperation and permission. (See SilverPlatter's Worldwide Library for bibliographic search information.)

BIBLIOGRAHPIC SETS, in reverse chronological order:


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web contact: pietsch@indiana.edu