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出生时伴有小颌畸形和近侧肢体短小性软骨发育不良的魏森巴赫-茨韦米勒综合征,随后生长正常。

The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.

作者信息

Haller J O, Berdon W E, Robinow M, Slovis T L, Baker D H, Johnson G F

出版信息

Am J Roentgenol Radium Ther Nucl Med. 1975 Dec;125(4):936-43. doi: 10.2214/ajr.125.4.936.

Abstract

Two patients are reported with the clinical and roentgenographic findings of the Weissenbacher-Zweymuller syndrome. The features are neonatal micrognathia (Pierre Robin syndrome), rhizomelic chondrodysplasia with dumbbell shaped femur and humeri. The bone changes tend to regress and there is normal growth on serial studies. A third case seemed at birth to show similar roentgenographic changes but was dwarfed; serial observations revealed him to be a case of the Kniest syndrome with micrognathia as an added feature. The term "micrognathic dwarfism" suggested by Maroteaux is probably best aboided since it will inevitably include a variety of conditions, only some of which are associated with dwarfism.

摘要

报告了两名患有魏森巴赫-茨韦米勒综合征临床和影像学表现的患者。其特征为新生儿小颌畸形(皮埃尔·罗宾综合征)、伴有哑铃状股骨和肱骨的近侧段短小性软骨发育不良。骨骼改变有逐渐消退的趋势,系列研究显示生长正常。第三例患者出生时似乎有类似的影像学改变,但身材矮小;系列观察发现他是一名伴有小颌畸形这一附加特征的克尼斯特综合征患者。马罗泰提出的“小颌侏儒症”一词或许最好避免使用,因为它必然会涵盖多种病症,其中只有一些与侏儒症相关。

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