RESUMEN
Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between etiologic groups. A secondary endpoint was to determine the relationship of etiologic group, cleft type, and mortality. Retrospective chart review of patients with RS at two high-volume craniofacial centers. 295 patients with RS identified. CP was identified in 97% with iRS, 95% with SS, and 70% of those with SyndRS (p < .0001). U-shaped CP was seen in 86% of iRS, 82% with SS, but only 27% with SyndRS (p < .0001). At one institution, 12 children (6%) with RS died, all from the SyndRS group (p < .0001). All died due to medical comorbidities related to their syndrome. Only 25% of children who died had a U-shaped CP. The most common palatal morphology among those who died was an intact palate. U-shaped CP was most strongly associated with iRS and SS, and with a lower risk of mortality. RS with submucous CP, cleft lip and palate or intact palate was strongly suggestive of an underlying genetic syndrome and higher risk of mortality.
Asunto(s)
Artritis/genética , Labio Leporino/genética , Fisura del Paladar/genética , Enfermedades del Tejido Conjuntivo/genética , Pérdida Auditiva Sensorineural/genética , Síndrome de Pierre Robin/genética , Desprendimiento de Retina/genética , Artritis/diagnóstico por imagen , Artritis/mortalidad , Artritis/patología , Niño , Preescolar , Labio Leporino/diagnóstico por imagen , Labio Leporino/mortalidad , Labio Leporino/patología , Fisura del Paladar/diagnóstico por imagen , Fisura del Paladar/mortalidad , Fisura del Paladar/patología , Enfermedades del Tejido Conjuntivo/diagnóstico por imagen , Enfermedades del Tejido Conjuntivo/mortalidad , Enfermedades del Tejido Conjuntivo/patología , Femenino , Pérdida Auditiva Sensorineural/diagnóstico por imagen , Pérdida Auditiva Sensorineural/mortalidad , Pérdida Auditiva Sensorineural/patología , Humanos , Lactante , Masculino , Síndrome de Pierre Robin/diagnóstico por imagen , Síndrome de Pierre Robin/mortalidad , Síndrome de Pierre Robin/patología , Desprendimiento de Retina/diagnóstico por imagen , Desprendimiento de Retina/mortalidad , Desprendimiento de Retina/patología , Estudios RetrospectivosRESUMEN
OBJECTIVES: To review a patient series of 16 cochlear implantations performed under local anaesthetic (LA), including a description of the centre's technique for this procedure. We also describe the application of a method for calculation of the potential morbidity/mortality avoided by using this technique. METHODS: Chart review of 16 patients' pre-operative medical and anaesthetic notes and calculation of predicted individual P-POSSUM Scores for operative morbidity/mortality. RESULTS: All 16 patients were implanted successfully with no significant complications. Age range was 26-92 years, with an average of 68 years. The patients' average predicted mortality score associated with a general anaesthetic (GA) was 8.6% and morbidity score was 58%. CONCLUSIONS: Our experience shows LA cochlear implantation to be a safe and effective procedure. It has the benefit of avoiding the operative mortality risk predicted by P-POSSUM Scores. Cochlear implantation is known to significantly improve quality of life for users. Our findings suggest a potential group of cochlear implant recipients considered 'unfit' for GA may be being denied access to this intervention or being exposed to additional risk.