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范科尼贫血、髓母细胞瘤、肾母细胞瘤、马蹄肾和性腺发育不全。

Fanconi's anemia, medulloblastoma, Wilms' tumor, horseshoe kidney, and gonadal dysgenesis.

作者信息

de Chadarévian J P, Vekemans M, Bernstein M

出版信息

Arch Pathol Lab Med. 1985 Apr;109(4):367-9.

PMID:2985019
Abstract

An 18-month-old female infant with clinically and cytogenetically documented Fanconi's anemia was found to have two neoplasms previously unreported in this syndrome to our knowledge: a medulloblastoma and a Wilms' tumor, with the latter arising in a horseshoe kidney. An additional feature was pure gonadal dysgenesis. These unusual associations are discussed in the context of certain syndromes suggestive of an axial predisposition for neoplasia (kidneys-central nervous system and kidneys-gonads).

摘要

一名18个月大的女婴,临床和细胞遗传学诊断为范可尼贫血,被发现患有两种据我们所知在此综合征中先前未报告过的肿瘤:髓母细胞瘤和威尔姆斯瘤,后者发生于马蹄肾。另一个特征是单纯性腺发育不全。这些不寻常的关联在某些提示肿瘤形成存在轴向易感性的综合征(肾脏-中枢神经系统和肾脏-性腺)的背景下进行了讨论。

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