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[Early revealing of Williams-Beuren syndrome by digestive disorders]
I de Montgolfier-Aubron1, L Burglen, M S Chavet
1Service de néonatologie, hôpital d'enfants Armand-Trousseau, Paris, France.
Unlabelled:
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.