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1.
J Craniofac Surg ; 29(7): e717-e720, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30192293

RESUMEN

Traumatic facial soft tissue injury often creates both aesthetic and functional deficits. In complete lip avulsions, microvascular replantation is a reconstructive option that has the potential to fulfill both of these goals. However, lip replantations remain rare and there are few reports in the literature. The authors aim to present a clinical report of a young male who sustained a human bite injury and underwent microvascular replantation of a completely avulsed lower lip and to review the literature and management of these complex injuries.


Asunto(s)
Mordeduras Humanas/cirugía , Traumatismos Faciales/cirugía , Labio/lesiones , Labio/cirugía , Procedimientos de Cirugía Plástica/métodos , Reimplantación/métodos , Adulto , Amputación Traumática/cirugía , Mordeduras Humanas/complicaciones , Humanos , Labio/irrigación sanguínea , Masculino , Microcirugia , Traumatismos de los Tejidos Blandos/cirugía , Procedimientos Quirúrgicos Vasculares
2.
Am J Med Genet A ; 176(1): 167-170, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-29150902

RESUMEN

Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al. (); American Journal of Medical Genetics Part A 173A: 1358-1363]. This case supports the unpredictability of Wieacker-Wolff syndrome severity and prompts future questions regarding female mutations and phenotypic expression.


Asunto(s)
Apraxias/diagnóstico , Apraxias/genética , Fisura del Paladar/diagnóstico , Fisura del Paladar/genética , Contractura/diagnóstico , Contractura/genética , Estudios de Asociación Genética , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Atrofia Muscular/diagnóstico , Atrofia Muscular/genética , Oftalmoplejía/diagnóstico , Oftalmoplejía/genética , Proteínas Portadoras/genética , Preescolar , Cromosomas Humanos X , Facies , Femenino , Pruebas Genéticas , Humanos , Péptidos y Proteínas de Señalización Intracelular , Mutación , Proteínas Nucleares , Linaje , Fenotipo
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