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班纳扬综合征:一种常染色体显性疾病,其特征包括巨头畸形、脂肪瘤、血管瘤以及颅内肿瘤风险。

The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors.

作者信息

Higginbottom M C, Schultz P

出版信息

Pediatrics. 1982 May;69(5):632-4.

PMID:7079022
Abstract

The Bannayan syndrome is a disorder consisting of macrocephaly, alterations of linear growth, and benign mesodermal hamartomas--primarily lipomas and hemangiomas. The purpose of this report is to present a family with the Bannayan syndrome, confirming the genetic etiology of the disorder and demonstrating that affected individuals are at risk for developing intracranial neoplasms. This report brings to seven the number of cases reported in the literature.

摘要

班纳扬综合征是一种由巨头畸形、线性生长改变以及良性中胚层错构瘤(主要是脂肪瘤和血管瘤)组成的病症。本报告的目的是呈现一个患有班纳扬综合征的家族,证实该病症的遗传病因,并表明受影响个体有发生颅内肿瘤的风险。本报告使文献中报道的病例数增至七例。

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