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软骨发育不全:对II型软骨发育不全(兰格-萨尔迪诺型)的综述并给予特别关注

Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino).

作者信息

Chen H, Liu C T, Yang S S

出版信息

Am J Med Genet. 1981;10(4):379-94. doi: 10.1002/ajmg.1320100411.

Abstract

We describe two dwarfed infants with large head, short neck and chest, prominent abdomen, and short limbs. Both died neonatally. Radiographic and morphologic characteristics identified the Langer-Saldino form of achondrogenesis (type II). Review of type II achondrogenesis documented distinctive clinical and anthropometric manifestations (fewer stillbirths, longer survival time and gestation period, larger size of the baby, longer limbs, and characteristic craniofacial features) as compared with type I achondrogenesis (Parenti-Fraccaro).

摘要

我们描述了两名患有大头、短颈和胸部、突出腹部以及短肢的侏儒症婴儿。两人均在新生儿期死亡。影像学和形态学特征确定为Langer-Saldino型软骨发育不全(II型)。与I型软骨发育不全(Parenti-Fraccaro型)相比,对II型软骨发育不全的回顾记录了其独特的临床和人体测量学表现(死产较少、存活时间和妊娠期较长、婴儿体型较大、四肢较长以及特征性颅面特征)。

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