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一种新的家族性宫内生长迟缓综合征——“3-M综合征”。

A new familial intrauterine growth retardation syndrome the "3-M syndrome".

作者信息

Spranger J, Opitz J M, Nourmand A

出版信息

Eur J Pediatr. 1976 Sep 1;123(2):115-24. doi: 10.1007/BF00442641.

Abstract

Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are in accordance with autosomal recessive inheritance. In spite of some similarities, the bulk of clinical and genetic evidence suggests that the described intrauterine growth retardation syndrome is different from the Silver-Russell syndrome and presents an apparently "new" entity which has been designated 3-M syndrome.

摘要

本文描述了两对因产前骨骼发育不全导致匀称性侏儒的兄弟姐妹。其头围与年龄相符,但与身高相比不成比例地大。这些患者有一张与Silver-Russell综合征不同的特征性面容。家族数据符合常染色体隐性遗传。尽管存在一些相似之处,但大量的临床和遗传学证据表明,所描述的宫内生长迟缓综合征与Silver-Russell综合征不同,是一种明显的“新”疾病实体,已被命名为3-M综合征。

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