Autosomal dominant inheritance of tibial meromelia. Report of a kindred

Abstract

Three generations of a family demonstrated an autosomal dominant transmission of congenital absence of the tibia. Nine family members were affected, six in the first generation. Male-to-male, male-to-female, and female-to-female transmission occurred. This is the fourteenth case reported to document familial occurrence of tibial meromelia, and the first to document this mode of inheritance.