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[迟发性脊椎骨骺发育不良]

[Spondyloepiphyseal dysplasia tarda].

作者信息

Katona K, Fenyöházi L, Kimmel E

出版信息

Rontgenblatter. 1985 Dec;38(12):397-9.

PMID:4089484
Abstract

The authors report on a case of spondyloepiphyseal dysplasia tarda (SDT). The most important clinical and radiological signs are described and the criteria for differential diagnosis listed. Among the bone dysplasias Maroteaux, Lamy and Bernhard distinguished in 1957 a discrete form which they called spondyloepiphyseal dysplasia tarda. The condition was found in 20 patients from four generations of three families studied. SDT is a rare and little-known abnormality of bone development. There have been very few communications concerning this condition. Furthermore, this very rare condition is not considered often enough in differential diagnosis and the findings are often misinterpreted; this also occurred in earlier examinations of the case reported here. As early as 1937, Volhard et al. saw a clinical picture corresponding to this condition in three brothers, but they did not take the malformation to be an autonomous disease; they merely stated that the clinical picture differed from that of Morquio's disease. Giedeon et al. classified the changes found in their patients as being associated with Morquio-Brailsford dysostosis.

摘要

作者报告了一例迟发性脊椎骨骺发育不良(SDT)病例。描述了最重要的临床和放射学体征,并列出了鉴别诊断标准。在骨骼发育异常中,马罗泰克斯、拉米和伯恩哈德于1957年区分出一种离散型,他们称之为迟发性脊椎骨骺发育不良。在对三个家族四代的20名患者进行研究时发现了这种病症。SDT是一种罕见且鲜为人知的骨骼发育异常。关于这种病症的交流非常少。此外,在鉴别诊断中对这种极为罕见的病症考虑得不够充分,其结果常常被误解;在对本文所报告病例的早期检查中也出现了这种情况。早在1937年,福尔哈德等人在三兄弟身上看到了与这种病症相符的临床表现,但他们并未将这种畸形视为一种独立的疾病;他们只是指出临床表现与莫尔基奥氏病不同。吉迪恩等人将他们在患者身上发现的变化归类为与莫尔基奥 - 布雷斯福德骨发育不全相关。

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