胫骨缺如、拇指三节指骨畸形和多指畸形：一个家系的描述及产前诊断
Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis.
作者信息
Canún S, Lomelí R M, Martínez R, Carnevale A
出版信息
Clin Genet. 1984 Feb;25(2):182-6. doi: 10.1111/j.1399-0004.1984.tb00482.x.
Abstract
A family with absent tibiae, triphalangeal thumbs and polydactyly is described. Bilateral absence of tibiae is the most severe manifestation of this syndrome. The pedigree of this family suggests an autosomal dominant inheritance with variable expression. Prenatal diagnosis was made at 20.5 weeks of pregnancy. Fetal radiographs showed the presence of both tibiae; this finding was confirmed at birth.
摘要
本文描述了一个患有胫骨缺如、拇指三节指骨和多指畸形的家族。双侧胫骨缺如是该综合征最严重的表现。这个家族的系谱提示为常染色体显性遗传，具有可变表达。在妊娠20.5周时进行了产前诊断。胎儿X线片显示双侧胫骨存在；这一发现于出生时得到证实。
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