Epidemiology, etiology, and genetic aspects of reduction deficiencies of the lower limb.

Abstract

Although the majority of lower limb deficiencies are of sporadic occurrence and of unknown etiology, genetic factors are involved in a significant number, with variable modes of inheritance. A better-informed public is demanding advice concerning cause and recurrence. Careful scrutiny of the medical history and family tree and attention to phenotypic details may help to delineate entities. At times, specific chromosomal tests are important, mainly when there is bilateral or multiorgan involvement or when limb deficiency is associated with developmental delay and/or mental retardation. This paper is intended to refamiliarize the orthopaedic community with basic genetic aspects regulating reduction deficiencies of the lower limbs, and to emphasize on the importance and indications of genetic counseling.