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异染性侏儒症、克尼斯特综合征和假性软骨发育不全性发育异常。

Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias.

作者信息

Rimoin D L, Siggers D C, Lachman R S, Silberberg R

出版信息

Clin Orthop Relat Res. 1976 Jan-Feb(114):70-82.

PMID:177239
Abstract

Metatropic dwarfism, the Kniest syndrome, and pseudoachondroplastic dysplasia are specific chondrodystrophic disorders that have in common dysplasia of the metaphyses, epiphyses, and vertebrae. Metatropic dwarfism and the Kniest syndrome have been confused with Morquio's disease and with each other in the past, but can be easily distinguished on the basis of radiographic features, clinical features, and cartilage pathology. The pseudoachondroplastic dysplasias are associated with short limbed dwarfism and have been confused with achondroplastic dwarfism, but can be readily distinguished on the basis of the normal head, delayed age of onset, the typical radiographic features and the cartilage pathology.

摘要

异染性侏儒症、克尼斯综合征和假性软骨发育不全是特定的软骨发育不良疾病,它们的共同特征是干骺端、骨骺和脊椎发育异常。异染性侏儒症和克尼斯综合征过去曾与莫尔基奥氏病相互混淆,但根据X线特征、临床特征和软骨病理学可以很容易地鉴别。假性软骨发育不全与短肢侏儒症相关,曾与软骨发育不全性侏儒症混淆,但根据正常头部、发病年龄延迟、典型的X线特征和软骨病理学可以很容易地鉴别。

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