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Incomplete duplication of a lower extremity (polymelia): a case report
© Montalvo et al.; licensee BioMed Central Ltd. 2014
Received: 30 July 2013
Accepted: 24 February 2014
Published: 12 June 2014
Polymelia, or congenital duplication of a limb, is an extremely rare entity in humans, with few cases reported in the literature.
We present the case of a six-month-old Hispanic boy born with a lower limb bud on the left posterior thigh.
The infant had a favorable outcome and evolution after surgical treatment of his supernumerary limb, with no after-effects or impairment whatsoever.
Limb development involves a very large number of genes . One gene widely associated with the development of supernumerary limbs is the mouse mutant disorganization Ds gene [OMIM:223200] [9, 14], which is a semidominant gene with variable penetrance in heterozygotes and lethality in homozygotes; 67% of heterozygotes have multiple defects and the rest have single defects, in which polymelia is prominent .
Limb development is a very complex process involving precise gene regulation fundamental to normal growth . Findings in animal models have explained a great deal about these functions and have improved our understanding of the etiopathogeny of malformations, but more research is necessary to extend knowledge of these delicate processes. Surgical resection of the accessory limb at an early age is recommended in patients with supernumerary extremities [12, 15].
In our present case, the infant had a favorable outcome and evolution subsequent to surgical treatment of his supernumerary limb, with no sequelae or disability whatsoever to date.
Written informed consent was obtained from the patient’s legal guardian(s) for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
The authors thank Cesar Vaca (technologist) for his valuable technical support.
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