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 , FenotipoRESUMEN
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 VascularesRESUMEN
BACKGROUND: Dorsal spanning plate fixation can be used to treat comminuted distal radius fractures not amenable to volar plating. However, there is a relative paucity of outcomes data; so, the aim of this retrospective study was to investigate outcomes and complications after dorsal spanning plate fixation for distal radius fractures. METHODS: Distal radius fractures treated with dorsal spanning plate fixation at a level-1 trauma center were retrospectively identified via Current Procedural Terminology coding and chart review from 2014 to 2019. Patient demographics, fracture pattern characteristics, fixation techniques, and clinical outcomes were all obtained via chart review using the electronic medical record. RESULTS: In all, 43 dorsal plates were identified out of 369 operatively treated distal radius fractures (12%). Of these, 84% were AO type C, 28% were open fractures, and 86% resulted from falls. At the time of dorsal plating, 28% had an additional procedure. One patient had a major complication after surgery, requiring unplanned surgery for a radius nonunion. Average final follow-up occurred 9 weeks after dorsal plate removal, with mean range of motion at the wrist measuring: 36° flexion, 48° extension, 75° pronation, and 63° supination. Finger flexion was also measured, using either tip of finger to palm distance or total active motion, depending on the available data. These were measured at an average of 1.2 cm and 194°, respectively. CONCLUSIONS: Dorsal spanning plate fixation provides a safe and effective method for treating complex distal radius fractures. In our series, patients had good functional outcomes with few complications.