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ISSN 2007-087X (Print)
Órgano Oficial de la Sociedad Mexicana de Ortopedia Pediátrica

2011, Number 1

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Rev Mex Ortop Ped 2011; 13 (1)

Molecular etiology of congenital adduct club foot

Torres-Gómez A, Saleme CJ

Language: Spanish
References: 47
Page: 5-9
PDF size: 108.16 Kb.


ABSTRACT

Clubfoot is the most frequent congenital muscle-skeletal malformation; however, its etiology is unknown. Recently hox gene PITX1 has been identified as having possible etiologic role. TBX4 is another candidate gene that acts upstream PITX1. Both homeotic genes are involved in the differentiation of the lower extremity. The purpose of this paper is to review the molecular aspects of morphogenesis, the molecular etiology of clubfoot and role of the genetic variants described in genes PITX1 and TBX4 on its etiology in the general population. Recent studies on patients with this pathology (isolated and with a positive familial history), have showed that genetic variations that involve these two genes, are associated with clubfoot.


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