[消化系统疾病早期揭示威廉姆斯-贝伦综合征]
[Early revealing of Williams-Beuren syndrome by digestive disorders].
作者信息
de Montgolfier-Aubron I, Burglen L, Chavet M S, Tevissen H, Perrot C, Baudon J J, Gold F
机构信息
Service de néonatologie, hôpital d'enfants Armand-Trousseau, Paris, France.
出版信息
Arch Pediatr. 2000 Oct;7(10):1085-7. doi: 10.1016/s0929-693x(00)00318-3.
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.
未标注
威廉姆斯-贝伦综合征是一种罕见综合征，通常在幼儿期确诊。它包括智力发育迟缓、友善外向的性格、典型面容、主动脉瓣上狭窄和高钙血症。
病例报告
我们报告一例新生儿，其胃食管反流导致了威廉姆斯-贝伦综合征的诊断。已知高钙血症会引发消化症状，但该病例中不存在高钙血症。
结论
在新生儿期宣布这样的诊断很困难，可能会使家庭不安，但至少能对可能导致死亡的心血管疾病进行早期治疗。
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