Objective-To examine genetic and environmental factors in the origin of isolated congenital limb deficiencies.Design-Case-control study with questionnaire at a family interview of cases of isolated congenital limb deficiencies (six types), negative controls (matched for age, sex, and place of residence), and positive controls (cases ofsentinel anomalies).Setting- IntroductionMaternal smoking during pregnancy causes lower birth weight and higher rates of infant mortality and spontaneous abortion.12 The teratogenic effect of smoking during pregnancy, however, has not been proved unequivocally.We studied the possible genetic and environmental factors in the origin of isolated congenital limb deficiency (one or more limbs affected without other defects) in children in Hungary with a validated diagnosis. The data were gathered over 10 years and totalled 1 575 904 births.

A population-based and validated data set of 206 cases with apparent amniogenic limb deficiency was ascertained in Hungary between 1975 and 1984. Such limb defects frequently (36%) associated with nonlimb abnormalities. In 134 cases with isolated defects typically more limbs are affected, upper and lower limbs, right and left sides, and both sexes are equally affected. Case-control analysis of such isolated cases indicates a lower socioeconomic status of parents, a higher parity, more frequent unwanted pregnancies, preterm birth, and a higher rate of threatened abortion. Familial occurrence was not found in 415 first-degree relatives.

A population based and validated 10 year cohort of 94 cases with split hand/foot born in Hungary, 1975Hungary, -1984

No abstract