- Case report
- Open Access
- Open Peer Review
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.
- Endochondral Ossification
- Limb Development
- Epiphyseal Plate
- Posterior Thigh
- Left Lower Extremity
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.
- Bannykh SI, Bannykh GI, Mannino FL, Jones KL, Hansen L, Benirschke K, Masliah E: Partial caudal duplication in a newborn associated with meningomyelocele and complex heart anomaly. Teratology. 2001, 63: 94-99. 10.1002/1096-9926(200102)63:2<94::AID-TERA1015>3.0.CO;2-A.View ArticlePubMedGoogle Scholar
- Gómez Dumm C: Skeletal system and limbs in human embryology. Human Embryology: Atlas and Text [in Spanish]. 2003, Buenos Aires, Argentina: El Ateneo, 198-200.Google Scholar
- Brook WJ, Díaz-Benjumea FJ, Cohen SM: Organizing spatial pattern in limb development. Annu Rev Cell Dev Biol. 1996, 12: 161-180. 10.1146/annurev.cellbio.12.1.161.View ArticlePubMedGoogle Scholar
- Langman J: Skeletal system. Medical Embryology. Edited by: Sadler TW. 1982, Baltimore: Williams & Wilkins, 129-143. 4Google Scholar
- Moore KL, Persaud TVN: Skeletal system in the developing human. The Developing Human: Clinically Oriented Embryology. 2003, Philadelphia, PA: Saunders, 405-422. 7Google Scholar
- Cohn MJ, Izpisúa-Belmonte JC, Abud H, Heath JK, Tickle C: Fibroblast growth factors induce additional limb development from the flank of chick embryos. Cell. 1995, 80: 739-746. 10.1016/0092-8674(95)90352-6.View ArticlePubMedGoogle Scholar
- Crossley PH, Minowada G, MacArthur CA, Martin GR: Roles for FGF8 in the induction, initiation, and maintenance of chick limb development. Cell. 1996, 84: 127-136. 10.1016/S0092-8674(00)80999-X.View ArticlePubMedGoogle Scholar
- Ohuchi H, Nakagawa T, Yamamoto A, Araga A, Ohata T, Ishimaru Y, Yoshioka H, Kuwana T, Nohno T, Yamasaki M, Itoh N, Noji S: The mesenchymal factor, FGF10, initiates and maintains the outgrowth of the chick limb bud through interaction with FGF8, an apical ectodermal factor. Development. 1997, 124: 2235-2244.PubMedGoogle Scholar
- Winter RM, Donnai D: A possible human homologue for the mouse mutant disorganisation. J Med Genet. 1989, 26: 417-420. 10.1136/jmg.26.7.417.View ArticlePubMedPubMed CentralGoogle Scholar
- Norman WH: A child with three lower extremities. J Bone Joint Surg Am. 1964, 46: 1755-1758.PubMedGoogle Scholar
- Hanley EN, Stanitski CL: Incomplete congenital duplication of a lower extremity: a case report. J Bone Joint Surg Am. 1980, 62: 479-481.PubMedGoogle Scholar
- Acharya S, Pradhan NK, Rao PT: Congenital incomplete reduplication of the lower limb: a case report. Int Orthop. 1993, 17: 308-309.View ArticlePubMedGoogle Scholar
- Vogel A, Rodriguez C, Izpisúa-Belmonte JC: Involvement of FGF-8 in initiation outgrowth and patterning of the vertebrate limb. Development. 1996, 122: 1737-1750.PubMedGoogle Scholar
- Cohn MJ, Patel K, Krumlauf R, Wilkinson DG, Clarke JD, Tickle C: Hox9 genes and vertebrate limb specification. Nature. 1997, 387: 97-101. 10.1038/387097a0.View ArticlePubMedGoogle Scholar
- García-Espinosa I, García-Cruz R, Huerta-Mendoza H, Cabrera-Hernández R, Merelo-Villafán I, López-Alfonso A: [Polymelia: case report and review of the literature] [in Spanish]. Acta Ortop Mex. 2002, 16: 272-275.Google Scholar
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