Evaluation of aetiology and treatment of a patient with pseudoanodontia – case study

Cleidocranial syndrome (cleidocranial dysplasia, de P.Marie and Sainton disease) is a hereditary (dominant allel) congenital disorder, with similar occurrence rates in both sexes. It is characterized by aplasia or hypoplasia of the clavicles, alongside with dental abnormalities concerning the amount of teeth and their failure to erupt. Case study: a 48-year-old female patient reported pain in region 21 which made using herfull upper denture impossible. Extraoralexamination revealed facial skeleton anomalies, intraoral - adontia in both the maxilla and the mandible and connective tissue inflammation in the area surrounding a passively erupting tooth 21. Orthopantomographic examination revealed multiple nonerupted teeth, supernumerary teeth and some missing tooth buds. All of the above symptoms matched those typical of cleidocranial syndrome. In order to settle for a definite diagnosis, chest X-ray and genetic tests were conducted. The latter (targeted at a gene responsible for ~90% of cleidocranial syndrome cases) turned out negative, but the number of symptoms was sufficient to uphold the diagnosis. Due to inflammation, a decision was made to remove all of the non-erupted maxillary teeth. After healing, CBCT was performed, and it was planned to restore the masticatory system function by inserting 4 prosthetic implants to supporta an overdenture.