RESUMO
A 12-year-old boy with a supernumerary chromosome, probably derived from number 22, had typical features of Duane syndrome with limitation of abduction and retraction of the globe upon adduction. Additionally, the patient had antimongoloid slant of the eyes, epicanthal folds, preauricular sinuses, cardiac malformations, skeletal malformations, and mental retardation suggestive of the cat-eye syndrome. The cat-eye syndrome has been often associated with a supernumerary chromosome derived from number 22. Our patient's karyotype was 46,XY/47,XY, + mar, with the supernumerary chromosome probably derived from number 22. These findings supplement previous findings of chromosome 22 abnormality associated with an ocular motility disorder.
Assuntos
Transtornos Cromossômicos/diagnóstico , Fissura Palatina/diagnóstico , Síndrome da Retração Ocular/diagnóstico , Cardiopatias Congênitas/diagnóstico , Deficiência Intelectual/diagnóstico , Mosaicismo , Hipotonia Muscular/diagnóstico , Aneuploidia , Criança , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 22/genética , Fissura Palatina/genética , Síndrome da Retração Ocular/genética , Anormalidades do Olho , Movimentos Oculares , Cardiopatias Congênitas/genética , Humanos , Deficiência Intelectual/genética , Cariotipagem , Masculino , Hipotonia Muscular/genéticaRESUMO
Adjustable suture strabismus surgery has proved to be a significant aid in handling difficult strabismus cases, and various methods of conjunctival closure have been discussed. A new method of conjunctival closure, enabling direct visualization and manipulation of the muscle with minimal tissue drag during adjustment, is described. The conjunctiva can be fully closed over the knot after adjustment, providing increased patient comfort and a better cosmetic result.
Assuntos
Túnica Conjuntiva/cirurgia , Estrabismo/cirurgia , Humanos , MétodosAssuntos
Dexametasona/análogos & derivados , Estrabismo/cirurgia , Cicatrização/efeitos dos fármacos , Cicatriz/prevenção & controle , Túnica Conjuntiva/cirurgia , Doenças da Túnica Conjuntiva/prevenção & controle , Conjuntivite/prevenção & controle , Cistos/prevenção & controle , Dexametasona/uso terapêutico , Método Duplo-Cego , Humanos , Complicações Pós-Operatórias/prevenção & controle , Estudos Prospectivos , ReoperaçãoRESUMO
A technique utilizing a thin silicone sheet and a polyethylene tube to surgically repair symblepharon is described. A summary of cases treated by this technique is reviewed and other areas for further study are discussed.
