ABSTRACT
CASE REPORT: We report the case of a child short in stature with brachydactyly and brachymorphy who was referred to our office complaining of poor vision. This was a case of Weill-Marchesani's syndrome described in a family, in which four of the eight children were affected by spherophakia, brachymorphy and brachydactyly. DISCUSSION: There are few familial cases of Weill-Marchesani's syndrome reported in the literature. Both autosomal dominant and recessive inheritances have been described. The opththalmologist plays a crucial role in its diagnosis and management, since the ocular involvement is the most severe one.
Subject(s)
Abnormalities, Multiple , Ectopia Lentis , Fingers/abnormalities , Lens, Crystalline/abnormalities , Toes/abnormalities , Adolescent , Ectopia Lentis/genetics , Humans , Intraocular Pressure , Male , Syndrome , Visual AcuityABSTRACT
Caso clínico: Presentamos el caso clínico de unniño con talla baja, braquidactilia y braquimorfiaremitido a la consulta por baja visión. Se trata de uncaso de síndrome de Weill-Marchesani en una familiaen la que cuatro de los ocho hijos presentan esferofaquia,braquimorfia y braquidactilia.Discusión: Existen pocos casos familiares del síndromede Weill-Marchesani reflejados en la literatura.Se han descrito patrones de herencia tantoautosómico dominante como recesivo. El papel deloftalmólogo en su diagnóstico y manejo es esencial,ya que la afectación oftalmológica es la más grave
Case report: We report the case of a child short in ;;stature with brachydactyly and brachymorphy who ;;was referred to our office complaining of poor ;;vision. This was a case of Weill-Marchesanis syndrome ;;described in a family, in which four of the ;;eight children were affected by spherophakia, ;;brachymorphy and brachydactyly. ;;Discussion: There are few familial cases of Weill- ;;Marchesanis syndrome reported in the literature. ;;Both autosomal dominant and recessive inheritances ;;have been described. The opththalmologist ;;plays a crucial role in its diagnosis and management, ;;since the ocular involvement is the most severe ;;one
Subject(s)
Male , Child , Humans , Abnormalities, Multiple , Lens, Crystalline/abnormalities , Eye Abnormalities/diagnosis , Refractive Errors/diagnosis , Fingers/abnormalitiesABSTRACT
CASE REPORT: We report the case of a 66-year-old patient with serpiginous-like choroiditis and terminal epidermoid lung carcinoma. DISCUSSION: Serpiginous choroiditis is an idiopathic disease, although similar lesions have been described in association with tuberculosis, sarcoidosis, systemic lymphoma, herpes virus infection and Crohn's disease. The coexistence of serpiginous-like choroiditis and a lung carcinoma has not previously been described.
Subject(s)
Carcinoma, Squamous Cell/complications , Choroiditis/complications , Lung Neoplasms/complications , Aged , Humans , MaleABSTRACT
Caso clínico: Presentamos el caso clínico de un paciente varón de 66 años con lesiones coroideas de tipo serpinginoso y carcinoma pulmonar en fase terminal.Discusión: La coroiditis serpinginosa es una enfermedad idiopática, si bien se han descrito lesiones similares asociadas a tuberculosis, sarcoidosis, linfoma sistémico, infección por herpes virus y enfermedad de Crohn. La coexistencia de lesiones coroideas de tipo serpinginoso y un carcinoma pulmonar no ha sido descrita hasta el momento en la literatura (AU)
Case report: We report the case of a 66-year-old patient with serpiginous-like choroiditis and terminal epidermoid lung carcinoma.Discussion: Serpiginous choroiditis is an idiopathic disease, although similar lesions have been described in association with tuberculosis, sarcoidosis, systemic lymphoma, herpes virus infection and Crohn´s disease. The coexistence of serpiginous-like choroiditis and a lung carcinoma has not previously been described (AU)
