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股骨发育不全-特殊面容综合征

The femoral hypoplasia-unusual facies syndrome.

作者信息

Burn J, Winter R M, Baraitser M, Hall C M, Fixsen J

出版信息

J Med Genet. 1984 Oct;21(5):331-40. doi: 10.1136/jmg.21.5.331.

Abstract

A series of thirteen persons with bilateral femoral hypoplasia are presented. Six of these had facial features compatible with a diagnosis of femoral hypoplasia-unusual facies syndrome. One was attributable to severe fetal constraint secondary to oligohydramnios, three were associated with maternal diabetes, and two were idiopathic. All thirteen cases were sporadic.

摘要

本文报告了13例双侧股骨发育不全的患者。其中6例具有与股骨发育不全-特殊面容综合征诊断相符的面部特征。1例归因于羊水过少继发的严重胎儿受压,3例与母亲糖尿病有关,2例病因不明。所有13例均为散发病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/a1bef708009c/jmedgene00103-0012-a.jpg

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