RESUMO
La anoftalmia y la microftalmia congénitas son defectos oculares poco frecuentes, generalmente identificados en el momento del nacimiento, como resultado de alteraciones en la organogénesis del ojo a consecuencia de la acción de factores genéticos y ambientales durante el desarrollo embrionario. Estas anomalías provocan grave discapacidad visual a las personas que la padecen, por lo que generan gran repercusión en el ámbito psicosocial. El diagnóstico y el tratamiento precoz permitirán la estimulación visual a edad temprana, la corrección parcial o total de la anomalía y una mejor calidad de vida de estos pacientes, aun cuando no sea posible evitar la ceguera. La conducta ante estas afecciones es compleja y controversial; constituyen un reto para el cirujano oculoplástico y para el protesista. Por esta razón se decide realizar una revisión bibliográfica para profundizar en el adecuado manejo clinicoquirúrgico de estas anomalías(AU)
Congenital anophthalmia and microphthalmia are infrequent ocular defects at the time of birth as a result of alterations in the organ genesis of the eye caused by the action of genetic and/or environmental factors during the embryonic development. These anomalies bring about serious visual impairment to people who suffer it and have great impact on the psychosocial context. Early diagnosis and treatment allows visual stimulation at younger ages, partial or total correction of the anomaly and a better quality of life for these patients, even when it is not possible to avoid blindness. The behavior before these affections is complex and controversial; it represents a challenge for the oculoplasty surgeon and the prosthesis specialist. The objective of this literature review was to delve into the adequate clinical and surgical management of these anomalies(AU)
Assuntos
Humanos , Anoftalmia/genética , Técnicas de Diagnóstico por Cirurgia/estatística & dados numéricos , Microftalmia/diagnóstico , Microftalmia/terapia , Literatura de Revisão como Assunto , Pessoas com Deficiência VisualRESUMO
Congenital absence of the nose (arhinia) is extremely rare. Arhinia leads to severe airway impairment and poor feeding in the neonate. Th e degree of nasal absence varies from case to case. Here, we present a case of congenital complete arhinia associated with other craniofacial anomalies. Arhinia leads to severe respiratory distress and feeding problems in newborn warranting emergency management, but our case diff ers as the child was adapted to mouth breathing and naso-gastric tube feeding, giving us the opportunity to delay the defi nitive management for a few weeks yet avoiding the risk of operating in a small child to create nasal airway or tracheostomy on an emergency basis.