| Literature DB >> 1112852 |
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.Entities:
Mesh:
Year: 1975 PMID: 1112852
Source DB: PubMed Journal: J Bone Joint Surg Am ISSN: 0021-9355 Impact factor: 5.284