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Department of Human Genetics and Teratology, National Institute of Hygiene - WHO Collaborating Centre for Community Control of Hereditary Diseases, Budapest, Hungary Department of Gynaecology and Obstetrics, State Hospital, Budapest, Hungary Institut fur Humangenetik, Westfalische Wilhelms University, Munster, Germany Correspondence to: Dr Czeizel, OKI, Gyali ut 2-6, Budapest, 1966-Hungary.
Abstract
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 of sentinel anomalies).
Setting : The database of the Hungarian Congenital Abnormality Registry, 1975-84, complemented by three other sources of ascertainment (1575 904 births).
Subjects : 537 case-control pairs; 392 positive controls.
Main outcome measures : Smoking during pregnancy, congenital limb deficiencies.
Results : The adjusted rate of smoking during pregnancy was significantly higher in the mothers of cases of terminal transverse defect (relative odds 1.48; 95% confidence interval 0.98 to 2.23; P=0.017). This finding supports the hypothesis of vascular disruption as a cause of congenital limb deficiency.
Conclusions : Maternal smoking during pregnancy raises the relative odds for terminal transverse20limb deficiencies.
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Clinical implications
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