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01-10-2008 | Current Concept Review

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

Author: Ismat Ghanem

Published in: Journal of Children's Orthopaedics | Issue 5/2008

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.

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Title: Epidemiology, etiology, and genetic aspects of reduction deficiencies of the lower limb
Author: Ismat Ghanem
Publication date: 01-10-2008
Publisher: Springer Berlin Heidelberg
Published in: Journal of Children's Orthopaedics / Issue 5/2008
Print ISSN: 1863-2521
Electronic ISSN: 1863-2548
DOI: https://doi.org/10.1007/s11832-008-0098-9

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

Abstract

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Abstract

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