[Early revealing of Williams-Beuren syndrome by digestive disorders]

Arch Pediatr. 2000 Oct;7(10):1085-7. doi: 10.1016/s0929-693x(00)00318-3.
[Article in French]

Abstract

Williams-Beuren syndrome is a rare syndrome for which diagnosis is usually made during early childhood. It includes mental retardation, friendly outgoing personality, typical facies, supravalvular aortic stenosis and hypercalcemia.

Case report: We report the case of a newborn whose gastroesophageal reflux led to the diagnosis of Williams-Beuren syndrome. Hypercalcemia is known to precipitate digestive symptoms but was not present in this case.

Conclusion: Announcing such a diagnosis in the neonatal period is difficult and may destabilize the family, but at least allows early care of the cardiovascular pathologies that may lead to death.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Age Factors
  • Chromosomes, Human, Pair 7 / genetics
  • Elastin / genetics
  • Gastroesophageal Reflux / etiology*
  • Humans
  • In Situ Hybridization
  • Infant, Newborn
  • Male
  • Williams Syndrome / diagnosis*
  • Williams Syndrome / genetics

Substances

  • Elastin