RESUMEN
The pathogenesis of congenital radial head dislocation/subluxation is unknown and has not been previously investigated. In this review, we explore the pathogenesis and define five different primary insults: collagen abnormalities, abnormal endochondral ossification of the developing growth plate, abnormalities of forearm ossification outside the growth plate, disproportionate growth of the radius and ulna, and altered HOX D expression/activity. Finally, the clinical relevance of our review is discussed.
Asunto(s)
Luxaciones Articulares/genética , Radio (Anatomía)/anomalías , Deformidades Congénitas de las Extremidades Superiores/genética , Colágeno/metabolismo , Placa de Crecimiento/patología , Humanos , Luxaciones Articulares/metabolismo , Luxaciones Articulares/patología , Mutación , Osteogénesis , Radio (Anatomía)/patología , Transducción de Señal , Deformidades Congénitas de las Extremidades Superiores/metabolismo , Deformidades Congénitas de las Extremidades Superiores/patologíaRESUMEN
Oral-facial-digital syndrome type I (OFDI) is an X-linked syndrome, which has several craniofacial and limb features; and hence, patients frequently present to craniofacial and plastic surgeons. Oral-facial-digital syndrome type I is caused by mutations in the CXORF5 gene. The gene product is one of the basal body proteins of a slim microtubule-based organelle called the "primary cilium". Most of the clinical features of OFDI patients are related to dysfunctions of the primary cilium leading to abnormal Hedgehog signal transduction, depressed planar cell polarity pathway, and errors in cell cycle control.
