RESUMO
Authors report nine cases of asymmetric crying facies related to congenital aplasia or hypoplasia of depressor anguli oris muscle (DAOM). The interest of this abnormality consists in the frequently associated malformations (over 50%), specifically, congenital heart disease, urogenital, musculoskeletal and cervicofacial. This association occurs in five of our cases. Its genetical condition is significant: 22% in our own series. The paper emphasizes the easiness of diagnosis (merely observing the baby crying) and also its frequency, higher than usually thought.
Assuntos
Anormalidades Múltiplas/diagnóstico , Choro , Assimetria Facial/congênito , Assimetria Facial/complicações , Assimetria Facial/genética , Feminino , Humanos , Recém-Nascido , MasculinoRESUMO
A new case of atipic chondrodystrophies classified as tanatophoric dwarfism, with pathologic studies is presented. At the same time a revision of the most important works of literature is made. Genetic, clinic and pathologic aspects of the picture have being studied, presenting the differential diagnosis with other osteochondrodysplasias of the newborn.