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一名重度智力障碍患者患齐默尔曼-拉班德综合征。

Zimmermann-Laband syndrome in a patient with severe mental retardation.

作者信息

Van Buggenhout G J, Brunner H G, Trommelen J C, Hamel B C

机构信息

Department of Human Genetics, University Hospital Nijmegen, Netherlands.

出版信息

Genet Couns. 1995;6(4):321-7.

PMID:8775419
Abstract

Zimmermann-Laband syndrome in a patient with severe mental retardation: The Zimmermann-Laband syndrome (ZLS) is a rare autosomal dominant disorder characterized by gingival hyperplasia or fibromatosis, various skeletal anomalies including dysplasia of the distal phalanges of thumbs and halluces, vertebral defects, and hepatosplenomegaly. Thus far, 23 cases, including 11 patients from 2 families, have been reported. Most cases of ZLS have a normal intelligence although some cases are mildly retarded. Differential diagnosis includes other causes of gingival hyperplasia. We report on a patient with ZLS and severe mental retardation and review the literature. We conclude that severe mental retardation is a feature of the syndrome.

摘要

一名重度智力障碍患者的齐默尔曼 - 拉班德综合征:齐默尔曼 - 拉班德综合征(ZLS)是一种罕见的常染色体显性疾病,其特征为牙龈增生或纤维瘤病、包括拇指和拇趾远端指骨发育异常在内的各种骨骼异常、脊椎缺陷以及肝脾肿大。迄今为止,已报告23例,其中包括来自2个家族的11名患者。大多数ZLS病例智力正常,尽管有些病例有轻度智力障碍。鉴别诊断包括牙龈增生的其他病因。我们报告了一名患有ZLS和重度智力障碍的患者并对文献进行了综述。我们得出结论,重度智力障碍是该综合征的一个特征。

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