Early digestive revelation of Williams-Beuren syndrome: a case report.

Williams-Beuren syndrome is a rare syndrome for which diagnosis is usually made during early childhood. It includes mental retardation, friendly outgo ing personality, typical facies, supravalvular aortic stenosis and hypercal cemia. Case report. - We report the case of a newborn whose gastroesophageal reflu x 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 difficu lt and may destabilize the family, but at least allows early care of the ca rdiovascular pathologies that may lead to death. (C) 2000 Editions scientif iques et medicales Elsevier SAS.