Parámetros diagnósticos de la displasia cleidocraneal: una enfermedad poco frecuente

Abstract

Introduction : cleidocranial dysplasia is a rare skeletal condition with an autosomal dominant genetic trait, caused by mutations in the CBFA1 / RUNX2 gene, characterized by delayed cranial suture closure, clavicular hypoplasia or aplasia, narrow thorax and abnormalities Dental procedures. Clinical case : 16-year-old male patient, with short stature, sagging shoulders, narrow chest, poorly developed clavicular pits, great mobility of the shoulders when approaching the anterior midline of the thorax, oral conditions such as delayed eruption of the secondary dentition And dental crowding, radiographically clavicular hypoplasia, bell-shaped thorax and presence of multiple supernumerary teeth, characteristics compatible with cleidocranial dysplasia, the case is reported. Conclusion : the CDD presents clinical and radiographic characteristics that serve as significant parameters to make a correct diagnosis, the study of the family is important since the pathology is of autosomal dominant inheritance.