Early revealing of Williams-Beuren syndrome by digestive disorders] |
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Authors: | I de Montgolfier-Aubron L Burglen M S Chavet H Tevissen C Perrot J J Baudon F Gold |
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Institution: | Service de néonatologie, h?pital d'enfants Armand-Trousseau, Paris, France. |
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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. |
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