Williams-Beuren Syndrome: An Update and Review for the Primary Physician

@article{Lashkari1999WilliamsBeurenSA,
  title={Williams-Beuren Syndrome: An Update and Review for the Primary Physician},
  author={A. Lashkari and Andrew K. Smith and J. Graham},
  journal={Clinical Pediatrics},
  year={1999},
  volume={38},
  pages={189 - 208}
}
Williams-Beuren syndrome is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. It consists of a variety of hallmark physical features, which include distinctive facial characteristics, cardiac anomalies (of which the most common is supravalvular aortic stenosis), and occasional idiopathic hypercalcemia. The condition also includes a unique cognitive profile, with relative sparing of language and facial recognition skills… Expand
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TLDR
The most consistent features are growth deficiency which is predominantly of postnatal onset, mild microcephaly with mental deficiency, and an altered pattern of facial development which includes short palpebral fissures, a stellate pattern in the iris, medial eyebrow flare, and a depressed nasal bridge with anteverted nares. Expand
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.
Williams syndrome (WS) is a multisystem disorder characterized by mental retardation, a specific neurobehavioral profile, characteristic facies, infantile hypercalcemia, cardiovascular abnormalities,Expand
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This review examines the Williams syndrome (WS) from an historical perspective, beginning with the early descriptions of idiopathic infantile hypercalcemia (IIH) and ending with some speculativeExpand
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TLDR
It is suggested that sudden death is a more common complication than has been assumed previously and strategies for monitoring patients with WS should be developed in an attempt to identify those at increased risk of sudden death. Expand
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TLDR
In all 3 families, the parent with Williams syndrome was diagnosed after the identification of the syndrome in the affected child, and none of these patients has supravalvular aortic stenosis or chromosome abnormalities. Expand
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TLDR
A genetic link between Williams syndrome and the hereditary form of infantile esotropia is postulated, because of the high prevalence of esotropa in patients with Williams syndrome compared to the general population. Expand
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TLDR
This work reports on a family in which SVAS is cosegregating with a balanced reciprocal translocation, t(6:7) (p21.1;q11.23), providing further evidence that SVas is the result of a mutation of elastin at 7q 11.23 region. Expand
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.
TLDR
Results support the usefulness of FISH for the detection of elastin deletions as an initial diagnostic assay for Williams syndrome. Expand
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
TLDR
Hemizygosity at the elastin locus is identified using genetic analyses in four familial and five sporadic cases of Williams syndrome, indicating that deletions involving oneElastin allele cause WS and implicate elast in hemizygosa in the pathogenesis of the disease. Expand
The syndrome of idiopathic hypercalcemia of infancy with associated congenital heart disease
TLDR
Two patients are described in whom the diagnosis in infancy was idiopathic hypercalcemia with associated congenital heart disease and recent revaluation of the cardiac lesions demonstrated isolated supravalvular aortic stenosis in one case and isolated peripheral pulmonary artery stenoses in the other case. Expand
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