Environmental risk factors in isolated limb reduction defects

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Limb reduction defects (LRDs) refer to absence of either parts of a limb or entire limbs. They represent one of the most common visible phenotypic effects of several etiologies. The major causes of LRDs are abnormal genetic problems and intrauterine disruption. Many environmental risk factors have been implicated, such as teratogens.


The aim of the study was to identify environmental risk factors that may predispose to isolated LRDs.

Patients and methods

Forty-one Egyptian patients with isolated LRDs were studied. In addition to medical examination a detailed history was taken for each case, including parental exposure to different teratogens as a result of residence, occupation, special habits, or pregnancy history of the mother, including nutrition and maternal stress during pregnancy.


Most studied cases were sporadic, without a positive family history for LRD. The results showed significant risk impact on LRD with maternal exposure to environmental hazards (pesticides, insecticides, radiation) (P=0.00) and maternal history of drug intake in the form of hormones and NSAIDs (P=0.001); the risk increased among mothers who did not take folic acid supplement during the first trimester (P=0.017). Finally, early maternal trauma played a role as a risk factor for LRD, with a P value of 0.005.


Delineation of the environmental risk factors could be the first approach to preventing isolated LRDs.

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