Becker R, Wegner R D, Kunze J, Runkel S, Vogel M, Entezami M
Free University of Berlin, Klinikum Benjamin Franklin, Germany.
Clin Genet. 2000 Feb;57(2):148-50. doi: 10.1034/j.1399-0004.2000.570210.x.
Larsen syndrome shows a broad spectrum of clinical manifestation ranging from a lethal form of the disorder to a mild clinical expression with absence of major diagnostic features. Here we show that even intrafamilial manifestation may vary extremely to the point that Larsen syndrome in a father has been diagnosed only by typical sonographic features in an affected fetus.
拉森综合征临床表现范围广泛，从该疾病的致死型到缺乏主要诊断特征的轻度临床表现。在此我们表明，即使是家族内的表现也可能差异极大，以至于一位父亲的拉森综合征仅通过受影响胎儿的典型超声特征才得以诊断。
