The Journal of Bone and Joint Surgery, Vol 57, Issue 2 262-264, Copyright © 1975 by Journal of Bone and Joint Surgery, Inc
Autosomal dominant inheritance of tibial meromelia. Report of a kindred
MW Clark
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.