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1.
J Craniofac Surg ; 29(7): e717-e720, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30192293

RESUMO

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.


Assuntos
Mordeduras Humanas/cirurgia , Traumatismos Faciais/cirurgia , Lábio/lesões , Lábio/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Reimplante/métodos , Adulto , Amputação Traumática/cirurgia , Mordeduras Humanas/complicações , Humanos , Lábio/irrigação sanguínea , Masculino , Microcirurgia , Lesões dos Tecidos Moles/cirurgia , Procedimentos Cirúrgicos Vasculares
2.
Am J Med Genet A ; 176(1): 167-170, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29150902

RESUMO

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.


Assuntos
Apraxias/diagnóstico , Apraxias/genética , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Contratura/diagnóstico , Contratura/genética , Estudos de Associação Genética , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Atrofia Muscular/diagnóstico , Atrofia Muscular/genética , Oftalmoplegia/diagnóstico , Oftalmoplegia/genética , Proteínas de Transporte/genética , Pré-Escolar , Cromossomos Humanos X , Fácies , Feminino , Testes Genéticos , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Mutação , Proteínas Nucleares , Linhagem , Fenótipo
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