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 ?
Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome," American Journal of Human Genetics, vol.
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.
On clinical examination, the child was acyanotic and had the typical facies of Williams-Beuren syndrome.
23 chromosomal deletion, confirming the diagnosis of Williams-Beuren syndrome.
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.

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