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韦弗综合征中的颈椎异常与肿瘤。

Cervical spine anomalies and tumors in Weaver syndrome.

作者信息

Kelly T E, Alford B A, Abel M

机构信息

Division of Medical Genetics, University of Virginia School of Medicine, Charlottesville, Virginia, USA.

出版信息

Am J Med Genet. 2000 Dec 18;95(5):492-5. doi: 10.1002/1096-8628(20001218)95:5<492::aid-ajmg15>3.0.co;2-t.

Abstract

Weaver syndrome is an autosomal dominant disorder comprising accelerated growth rate and rapidly advancing skeletal maturation. Previous reports suggest that the phenotype in adults may be sufficiently subtle to make diagnosis difficult. Half brothers with classical childhood findings of Weaver syndrome and their father with minimal clinical findings showed cervical spine anomalies that likely represent a consistent radiographic finding in this disorder. One of the children represents the third occurrence of neoplasia in Weaver syndrome.

摘要

韦弗综合征是一种常染色体显性疾病,其特征为生长速度加快和骨骼成熟迅速推进。既往报道表明,成人的表型可能足够隐匿,以致诊断困难。有韦弗综合征典型儿童期表现的同父异母兄弟及其临床症状轻微的父亲均显示颈椎异常,这可能是该疾病一致的影像学表现。其中一名儿童是韦弗综合征中第三次出现肿瘤形成。

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