Koch H L
Rofo. 1983 May;138(5):603-6. doi: 10.1055/s-2008-1055794.
Three patients showing typical radiological appearances of dyschondrosteosis of Léri-Weill are described. The characteristic features of this syndrome are Madelung's deformity and growth retardation. Autosomal dominant inheritance is assumed, but sporadic cases also occur. In two of our patients--mother and daughter--we were able to confirm the mode of inheritance of this type of mesomelic growth retardation.
本文描述了三名表现出典型的勒里-韦尔软骨发育不全放射学表现的患者。该综合征的特征性表现为马德隆畸形和生长发育迟缓。推测为常染色体显性遗传,但也有散发病例。在我们的两名患者(母亲和女儿)中,我们能够证实这种类型的肢中段生长发育迟缓的遗传模式。