Williams-Beuren syndrome


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Wil·liams syn·drome

(wil'yŭms), [MIM*194050]
disorder characterized by distinctive facies with shallow supraorbital ridges, medial eyebrow flare, stellate patterning of the irises, small nose with anteverted nares, malar hypoplasia with droopy cheeks, full lips, supravalvar aortic stenosis, neonatal hypocalcemia, mild mental retardation, and loquacious personality. Autosomal dominant inheritance; this is a contiguous gene deletion syndrome, and one of the genes mutated is the elastin gene (ELN) on chromosome 7q.

Wil·liams syn·drome

(wil'yŭms), [MIM*194050]
disorder characterized by distinctive facies with shallow supraorbital ridges, medial eyebrow flare, stellate patterning of the irises, small nose with anteverted nares, malar hypoplasia with droopy cheeks, full lips, supravalvar aortic stenosis, neonatal hypocalcemia, mild mental retardation, and loquacious personality. Autosomal dominant inheritance; this is a contiguous gene deletion syndrome, and one of the genes mutated is the elastin gene (ELN) on chromosome 7q.

Wil·liams syn·drome

(wil'yăms sin'drōm)
Disorder characterized by distinctive facies with shallow supraorbital ridges, medial eyebrow flare, stellate patterning of the irises, small nose with anteverted nares, malar hypoplasia with droopy cheeks, full lips, supravalvar aortic stenosis, neonatal hypocalcemia, mild mental retardation, and loquacious personality. Autosomal dominant inheritance; this is a contiguous gene deletion syndrome and one of the genes mutated is the elastin gene (ELN) on chromosome 7q.
Synonym(s): elfin facies syndrome, Williams-Beuren syndrome.

Williams-Beuren syndrome

(wil'yamz-bur'en)
[J.C.P. Williams; A.J. Beuren, Ger. cardiologist, 1919–1984]
Williams syndrome.
References in periodicals archive ?
Pober, "Williams-Beuren syndrome," The New England Journal of Medicine, vol.
Fiorino, "A novel case report of congenital lobar emphysema in a patient with williams-beuren syndrome," Chest, vol.
Increased prevalence of left-handedness and left-eye sighting dominance in individuals with Williams-Beuren syndrome. Journal of Clinical and Experimental Neuropsychology, 27(8), 967-976.
And children with fragile X and Williams-Beuren syndromes showed significant declines in both IQ and behavior scores as they got older, while children with neurofibromatosis type 1 did not.
The Williams-Beuren syndrome, a rare congenital anomaly involving the vascular system, connective tissue, and central nervous system, was initially described by Williams et al.
Key words: Discapacited children, Inclusive Education, Williams-Beuren Syndrome.
Arterial hypertension during treatment with triptorelin in a child with Williams-Beuren syndrome. Pediatr Nephrol 2014;29:1633-1636.
Para a realizacao da presente pesquisa foram encontrados na base de dados Pubmed, 116 artigos com os descritores: sono-vigilia (sleep-awake) e sindrome de Williams-Beuren (Williams-Beuren syndrome), que corresponderam a metodologia de busca determinada, dos quais foram excluidos 106 por citarem o sono apenas como parte do fenotipo da sindrome, e um por nao ser encontrado como texto completo.
Congenital heart defects are multifactorial in origin and have several recognized genetic causes (e.g., DiGeorge and Williams-Beuren syndromes) (3) and noninherited risk factors (e.g., maternal pregestational diabetes and rubella infection) (4).

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