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在骨骼发育异常的鉴别诊断中,不要忽视魏斯曼-内特尔综合征。

Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias.

作者信息

Caksen H, Kurtoğlu S

机构信息

Department of Pediatrics, Yüzüncü Yil University, Faculty of Medicine, Van, Turkey.

出版信息

Genet Couns. 2004;15(1):81-5.

PMID:15083704
Abstract

Weismann-Netter syndrome (WNS), a rare condition, is characterized by an anterior curvature of the bones of the lower limbs, usually bilateral and symmetrical. It was first described in 1954 by Weismann-Netter and Stuhl. We report a 2-year-old girl with typical findings of WNS who was misdiagnosed as having rickets. Our purpose is to draw attention to the WNS in the differential diagnosis of skeletal dysplasias. We think that the true incidence of WNS is probably higher than previously reported; therefore, we would like to emphasize that WNS should be considered in patients who have bowed lower extremities and have been diagnosed as having syphilis or healed rickets.

摘要

魏斯曼 - 内特尔综合征(WNS)是一种罕见疾病,其特征为下肢骨骼向前弯曲,通常为双侧且对称。它于1954年由魏斯曼 - 内特尔和施图尔首次描述。我们报告了一名患有典型WNS表现的2岁女孩,她曾被误诊为佝偻病。我们的目的是在骨骼发育异常的鉴别诊断中引起对WNS的关注。我们认为WNS的实际发病率可能高于先前报道;因此,我们想强调,对于下肢弯曲且被诊断为梅毒或已治愈佝偻病的患者,应考虑WNS。

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