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

被引：5

作者：

de Montgolfier-Aubron, I ^{[1
]}

Burglen, L ^{[1
]}

Chavet, MS ^{[1
]}

Tevissen, H ^{[1
]}

Perrot, C ^{[1
]}

Baudon, JJ ^{[1
]}

Gold, F ^{[1
]}

机构：

[1] Hop Enfants Armand Trousseau, Serv Neonatol, F-75012 Paris, France

来源：

ARCHIVES DE PEDIATRIE | 2000年 / 7卷 / 10期

关键词：

Williams-Beuren syndrome; infant; newborn;

D O I：

10.1016/S0929-693X(00)00318-3

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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. (C) 2000 Editions scientifiques et medicales Elsevier SAS.

引用

页码：1085 / 1087

页数：3

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