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脑巨大症(索托斯综合征)的家族性发病情况。

Familial occurrence of cerebral gigantism, Sotos' syndrome.

作者信息

Hansen F J, Friis B

出版信息

Acta Paediatr Scand. 1976 May;65(3):387-9. doi: 10.1111/j.1651-2227.1976.tb04902.x.

Abstract

Since the original description of cerebral gigantism, about 85 cases have been reported. Four papers comment on familial occurrence but never in parents and their children. This paper describes the syndrome in a mother and her child, which, together with facts pointing towards prenatal etiology, such as excessive birthweight, striking mutual resemblance and abnormal dermatoglyphics, points to a genetic defect. Previous endocrine studies are enlarged by the findings of normal serum somatomedin and serum prolactin.

摘要

自从首次描述脑性巨人症以来,已报告约85例病例。有四篇论文提到了家族性发病情况,但从未涉及父母及其子女。本文描述了一位母亲及其孩子患该综合征的情况,再加上诸如出生体重过高、惊人的相似面容及异常皮纹等指向产前病因的事实,表明存在基因缺陷。正常血清生长调节素和血清催乳素的检测结果丰富了以往的内分泌学研究。

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