title: Isolated tibial hemimelia in sibs: an autosomal-recessive disorder?
abstract: Isolated tibial hemimelia is generally considered to occur sporadically. We report on isolated tibial hemimelia in two sibs born to phenotypically normal parents and review a similar case from the literature. These cases suggest autosomal-recessive inheritance. Whether isolated tibial hemimelia represents a discrete syndrome or an expression of a disorder with wider phenotypic variability remains unclear.
mesh_terms: D002675:Child, Preschool; D004200:Diseases in Twins; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D010641:Phenotype; D011859:Radiography; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging