Cleidocranial dysplasia

Abstract

Introduction: Cleidocranial dysostosis is a low incidence craniofacial syndrome whose characteristics are short stature, craniofacial, clavicular, vertebral and pelvic region anomalies. It shows autosomal dominant transmission etiology, it produces lengthening of the neck and narrowing of the shoulders, broad-based nose and sunken nasal bridge, cysts and multiple supernumerary teeth; IQ is normal.

Objective: To present two interesting cases of cleidocranial dysplasia.

Clinical cases: The first case we report here is a 28-year-old male patient, whose primary teeth have not fallen out. The regional examination showed the presence of hypertelorism, heart-shaped skull, depressed nasal bridge and wide nose, among other alterations. The second case is this patient's mother with similar clinical characteristics already described.

Conclusions: Cleidocranial dysostosis is a rare syndrome that has an autosomal dominant inheritance pattern. The diagnosis must be made in a timely manner to take medical-surgical actions that improve the quality of life of these patients, their management must be multidisciplinary, since there are anomalies in several systems that must be assessed by orthopedia, ENTa, genetics, as part of a management comprehensive of these cases.