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Syndrome de Williams
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Définition:
A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23, encompassing the gene. Clinical manifestations include supravalvular aortic stenosis (), , elfin facies, impaired visuospatial constructive abilities, and transient hypercalcemia in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Synonyme(s):
Syndrome de Williams-Beuren /
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(NLM)®
de l'INSERM (version française)
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