Stern H J, Clark R D, Stroberg A J, Shohat M
Department of Pediatrics, Harbor/UCLA Medical Center, Torrance.
Clin Genet. 1989 Dec;36(6):427-30.
We report vertical transmission of isolated congenital vertical talus through three generations of a Honduran family. Five of nine affected family members were examined and the diagnosis was confirmed radiographically. There was incomplete penetrance in one clinically unaffected woman with two affected children. Bilateral and unilateral involvement was seen with a wide range of severity. Based on this family and on cases reviewed from the literature, we propose that isolated congenital vertical talus can be inherited as an autosomal dominant trait with variable expression and incomplete penetrance.
我们报告了洪都拉斯一个家族三代人之间孤立性先天性垂直距骨的垂直传播情况。对九名受影响家族成员中的五人进行了检查，并通过影像学检查确诊。一名临床未受影响但有两个患病子女的女性存在不完全外显率。观察到双侧和单侧受累，严重程度范围广泛。基于这个家族以及文献中回顾的病例，我们提出孤立性先天性垂直距骨可作为一种具有可变表达和不完全外显率的常染色体显性性状遗传。
