Autosomal dominant inheritance of tibial meromelia. Report of a kindred.
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.
D004480:Ectromelia / Q000235:genetics* / Q000601:surgery; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D012737:Sex Factors; D013977:Tibia / Q000002:abnormalities*