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Zimmermann-Laband 综合征伴新表现病例报告。

Report of a case of Zimmermann-Laband syndrome with new manifestations.

机构信息

Department of Oral and Dentomaxillofacial Radiology, Affiliated Stomatology Hospital of Medical School, Nanjing University, China.

出版信息

Int J Oral Maxillofac Surg. 2010 Sep;39(9):937-41. doi: 10.1016/j.ijom.2010.01.023. Epub 2010 May 10.

Abstract

Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, abnormalities of the nose and/or ears, absence and/or hyperplasia of the nails or terminal phalanges of the hands and feet, hyperextensibility of joints, hepatosplenomegaly, mild hirsutism and mental retardation. The syndromic characteristics of Zimmermann-Laband syndrome are highly variable and complicated. This paper described a patient with Zimmermann-Laband syndrome with new manifestations and discusses the possible underlying genetic mechanisms.

摘要

齐默尔曼-兰巴德综合征是一种罕见的疾病,其特征为牙龈纤维瘤病、鼻和/或耳部异常、指甲或手足末端指(趾)甲缺失和/或增生、关节过度伸展、肝脾肿大、轻度多毛症和智力迟钝。齐默尔曼-兰巴德综合征的综合征特征高度可变且复杂。本文描述了一例具有新表现的齐默尔曼-兰巴德综合征患者,并讨论了可能的潜在遗传机制。

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