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Related Experiment Videos

Williams syndrome in twins.

M B Murphy1, F Greenberg, G Wilson

  • 1Department of Pediatrics, Texas Children's Hospital, Houston, Texas 77030.

American Journal of Medical Genetics. Supplement
|January 1, 1990
PubMed
Summary
This summary is machine-generated.

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This study reports two new sets of identical twins with Williams syndrome (WS), a genetic disorder. The findings support WS being genetic, as identical twins showed similar symptoms, unlike dizygotic twins.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Williams syndrome (WS) is a rare genetic disorder affecting development.
  • Previous reports documented identical twins with WS, suggesting a genetic link.
  • The genetic basis of WS requires further investigation, particularly regarding concordance in twins.

Observation:

  • Two additional sets of presumed identical twins with Williams syndrome were identified and studied.
  • All four patients presented with characteristic WS facial features, growth deficiency, and developmental delay.
  • Distal pulmonary artery stenosis was diagnosed in all patients, while supravalvular aortic stenosis was absent.

Findings:

  • The observed cases further support the occurrence of Williams syndrome in identical twins.

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  • Serum calcium levels were evaluated in one set of twins, with one twin exhibiting hypercalcemia.
  • No reported cases of concordance in dizygotic twins were found, contrasting with identical twins.

    • Implications:

    • These findings strengthen the evidence for Williams syndrome being a genetic disorder.
    • The high concordance in identical twins highlights the significant genetic contribution to WS.
    • Further research into genetic factors and phenotypic expression in Williams syndrome is warranted.