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[短肋多指综合征]

[Short rib-polydactyly syndromes].

作者信息

Garcia H, Drescher H, Kuchelmeister K, Lenz W, Roessner A

机构信息

Gerhard-Domagk-Inst. für Pathologie, Westf.-Wilhelms-Univ., Münster, F.R.G.

出版信息

Klin Padiatr. 1988 Mar-Apr;200(2):140-4. doi: 10.1055/s-2008-1033701.

Abstract

The authors report on a newborn which died only a few hours after birth. It manifested generalized dropsy and ascites, a central upper lip cleft, narrow thorax, severe dysraphia, short limbs but normal-length trunk, and brachydactyly. Particularly striking radiologic findings were the extremely short, horizontal ribs and a shortening of the long bones, with rounded calcification zones. On the basis of comparison with other cases of short rib-polydactyly syndromes (SRPS) and other chondrodysplasias, this case was classified as Majewski's syndrome, even though there was no polydactyly and the shortness of the tibiae was not as extreme as in typical cases.

摘要

作者报告了一名出生后仅数小时即死亡的新生儿。其表现为全身性水肿和腹水、上唇中央裂、胸廓狭窄、严重脊柱裂、四肢短小但躯干长度正常以及短指畸形。特别显著的放射学表现是肋骨极短且呈水平状,长骨缩短,并伴有圆形钙化区。基于与其他短肋多指综合征(SRPS)及其他软骨发育异常病例的比较,尽管该病例不存在多指畸形且胫骨短小程度不如典型病例那么严重,但仍被归类为马耶夫斯基综合征。

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