A FAMILY STUDY ON ISOLATED CONGENITAL RADIAL AND TIBIAL DEFICIENCIES IN HUNGARY, 1975-1984

Radial and tibial deficiencies are frequently (70%) associated with no n-limb abnormalities. Isolated radial and tibial deficiencies may have a different etiology: in this study radial deficiencies were more fre quent, there were milder subtypes and one-limb involvement was found i n 70% of cases, tibial deficiencies were rare, mild subtypes did not o ccur and in general more limbs were involved. Among multimelic cases, one case had hypoplasia of the tibia with polydactyly and two cases ha d tibial aplasia with split hand+/-foot of autosomal dominant inherita nce. Of 40 cases, four were familial. Findings of a case-control study on this population-based and validated 10-year cohort showed a lower mean birth weight and a higher rate of low birth weight in cases with isolated radial and tibial deficiency.