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.

Synonym(s): elfin facies syndrome, supravalvar aortic stenosis-infantile hypercalcemia syndrome, Williams-Beuren syndrome

Wil·liams syn·drome

(wil'yŭms), [MIM*194050]

Synonym(s): elfin facies syndrome, supravalvar aortic stenosis-infantile hypercalcemia syndrome, Williams-Beuren syndrome

Farlex Partner Medical Dictionary © Farlex 2012

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.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Williams-Beuren syndrome

(wil'yamz-bur'en)

[J.C.P. Williams; A.J. Beuren, Ger. cardiologist, 1919–1984]

Williams syndrome.

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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.

Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?

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.

Sindrome Williams: una enfermedad rara con sintomatologia contradictoria

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.

Severe aortic obstruction in Williams-Beuren syndrome--a short case series

Arterial hypertension during treatment with triptorelin in a child with Williams-Beuren syndrome. Pediatr Nephrol 2014;29:1633-1636.

Pseudotumour Cerebri Presentation in a Child Under the Gonadotropin-Releasing Hormone Agonist Treatment

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.

Sleep-wake, aspects of memory and melatonin in Williams-Beuren syndrome: a review of literature/Sono-vigilia, aspectos de memoria e melatonina em sindrome de Williams-Beuren: uma revisao de literatura

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).

Racial differences by gestational age in neonatal deaths attributable to congenital heart defects - United States, 2003-2006

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