Orodental manifestations of Noonan syndrome: a clinical case study

Abstract

Relevance. Mutations in the PTPN11 gene, a hallmark of Noonan syndrome, disrupt the normal development of connective tissue structure, resulting in a range of manifestations, including orodental abnormalities.

Clinical case description. This article presents a medical record of a 14-year-old patient diagnosed with Noonan syndrome who sought medical assistance due to exacerbated chronic generalized periodontitis. The authors implemented a two-stage treatment approach, resulting in satisfactory outcomes. They identified concurrent orodental symptoms and conducted analyses of orthopantomography and bone densitometry for both jaws. A personalized treatment schedule was devised, emphasizing the necessity for the patient's chronic periodontitis to be in a state of remission and the utilization of sedation for effective management. Following the implementation of a planned series of therapeutic interventions during the remission stage, including professional oral care, teeth splinting with orthodontic retainers, nonsurgical root debridement, and mandibular labial frenuloplasty, quarterly follow-up assessments were chosen as the preferred monitoring method.

Conclusion. Patients with hereditary pathologies, such as Noonan syndrome, often exhibit significant orodental manifestations. Addressing such conditions necessitates specific treatment techniques that integrate a comprehensive approach, timely diagnostics, and collaboration between general practitioners and dentists. Given the unique needs of these patients, it is essential to develop personalized treatment protocols tailored to their individual requirements, including the duration and efficacy of chosen treatments, as well as considerations for anesthesia or sedation care.