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长管状骨弯曲和轴前多指(趾)畸形是梅克尔综合征的体征吗?

Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

作者信息

Majewski F, Stöss H, Goecke T, Kemperdick H

出版信息

Hum Genet. 1983;65(2):125-33. doi: 10.1007/BF00286648.

Abstract

We describe four cases with signs resembling those of Meckel syndrome. Two cases demonstrated postaxial polydactyly; one case, preaxial polydactyly; and one case, pre- and postaxial polydactyly. Since there is at least one other reported case with preaxial polydactyly, it may be a rare sign of the Meckel syndrome. In all four cases, various degrees of bowing of the long tubular bones were observed. Since at least two cases exhibited typical Meckel syndrome and since in a few further reported cases X-ray examination revealed bowing of long tubular bones, this sign is considered to be a further, hitherto not well recognized sign of the Meckel syndrome, and not grounds for delineation of a new syndrome. An extensive review of the literature revealed, that shortened and bowed extremities may be present in about one-sixth of all cases with Meckel syndrome.

摘要

我们描述了4例具有类似梅克尔综合征体征的病例。2例表现为轴后多指畸形;1例为轴前多指畸形;1例为轴前和轴后多指畸形。由于至少还有1例报告的轴前多指畸形病例,因此它可能是梅克尔综合征的一种罕见体征。在所有4例病例中,均观察到长管状骨不同程度的弯曲。由于至少2例表现出典型的梅克尔综合征,并且在另外一些报告的病例中X线检查显示长管状骨弯曲,因此该体征被认为是梅克尔综合征的另一种迄今未被充分认识的体征,而不是划分一种新综合征的依据。对文献的广泛回顾显示,在所有梅克尔综合征病例中,约六分之一可能存在肢体缩短和弯曲。

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