RESUMO
Authors report three new cases of "chondrodysplasia punctata" two of them probably corresponding to Conradi-Hunerman's type and the third to rhizomelic type of Spranger. Series of cases published in Spain are reviewed. They conclude that clinic types of illness accepted according to Spranger (1971), in majority of spanish cases, have difficult application--own authors' opinion--because this differentiation does not solve clinic heterogeneity of illness. Genetics aspects of reviewed cases do not agree with expected and accepted results, probably because familiar antecedents were not well studied or genetics aspects are not yet well known.
Assuntos
Condrodisplasia Punctata/patologia , Condrodisplasia Punctata/diagnóstico por imagem , Condrodisplasia Punctata/genética , Humanos , Recém-Nascido , Masculino , Fenótipo , RadiografiaRESUMO
A patient with Urbach-Wiethe disease was studied, with special attention given to the analysis of the skin and mucosal lesions. An eosinophilia in the peripheral blood and a diabetic tendency were found. The skin papules and mucosal plaques contain abundant lipids, especially cholesterol (66 percent) and phospholipids (27 percent).