RESUMO
Chondrodysplasia calcificans punctata (CDP) is a rare congenital syndrome characterized by calcific stippling of the hyaline cartilage. CDP is classified into 4 types: the autosomal dominant Conradi-Hünermann type, the autosomal recessive rhizomelic type, the X-linked dominant form and the X-linked recessive form. We present a child affected with a rhizomelic CDP born from consanguinous parents. The ocular phenotype consisted of microphakia associated with a progressive bilateral "cataracta cortico-zonularis suturata". At 11 years of age, a phacoemulsification and intraocular lens implantation was performed in the left eye.
Assuntos
Catarata/genética , Condrodisplasia Punctata Rizomélica/genética , Fenótipo , Catarata/diagnóstico , Criança , Condrodisplasia Punctata Rizomélica/diagnóstico , Condrodisplasia Punctata Rizomélica/cirurgia , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Consanguinidade , Seguimentos , Genes Recessivos/genética , Humanos , Lentes Intraoculares , MasculinoRESUMO
In a retrospective study of 119 patients, followed for 1 to 30 years after treatment of a papillary carcinoma of the thyroid, the authors searched for possible prognostic factors of the risk of recurrence. Microcarcinomas, anaplastic tumors and Hürthle cell carcinomas were excluded from the study. In a univariate analysis, age (greater than 45 years), sex (male), loss of histologic differentiation, size (greater than 3 cm), presence of carcinomatous lymphangitis, extrathyroid extension, and presence of metastasis at diagnosis were associated with a higher recurrence rate; type of growth and multifocality were not significant. In a multivariate analysis (logistic regression), age, size, and carcinomatous lymphangitis were significant predictors for women, whereas metastasis at diagnosis and cystic growth were significant for men.