Burn J, Winter R M, Baraitser M, Hall C M, Fixsen J
J Med Genet. 1984 Oct;21(5):331-40. doi: 10.1136/jmg.21.5.331.
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.
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。