Otodental syndrome: Case report and differential diagnosis with Treacher Collins syndrome

Eur J Paediatr Dent. 2022 Mar;23(1):66-58. doi: 10.23804/ejpd.2022.23.01.12.


Background: Otodental syndrome and Treacher Collins syndrome are rare diseases that have similar clinical features, which can complicate the diagnostic process. These syndromes cause skeletal and dental abnormalities, the differential diagnosis can be based on clinical signs but only the genetic analysis can confirm it. The aim of this case report is to describe and compare clinical signs of these syndromes.

Case report: A 7-year-old patient came to our department: he presented abnormal tooth shapes and sizes, delayed teeth replacement and micrognathia. After extra- and intra-oral examination and radiographic exams, a clinical diagnosis of otodental syndrome was made, and a genetic testing was requested to confirm the diagnosis.

Conclusion: Dental management of patients with otodental syndrome is challenging due to agenesis, teeth malformation, lack of space for permanent dentition. Proper treatment decision is crucial to obtain the best result for the patient.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion
  • Chromosome Disorders* / complications
  • Chromosomes, Human, Pair 11
  • Coloboma
  • Diagnosis, Differential
  • Hearing Loss, Sensorineural
  • Humans
  • Male
  • Mandibulofacial Dysostosis* / complications
  • Mandibulofacial Dysostosis* / diagnostic imaging
  • Tooth Abnormalities* / diagnostic imaging

Supplementary concepts

  • Otodental Dysplasia