Orofacial Findings and Dental Management of Noonan Syndrome: A Case Report

Abstract

Noonan Syndrome (NS) is an autosomal dominant condition caused by mutations in multiple genes in the RAS-MAP (Mitogen-Activated Protein) Kinase pathway. It is typically characterised by short stature, broad webbed neck, abnormal chest shape, congenital heart defects and developmental delay. Oral manifestations include high arched palate, micrognathia, malocclusion, impacted teeth and jaw bones. Presented here is a case of NS in a 26-year-old female, reported to the dental clinic in College of Dentistry, Princess Nourah Bint Abdulrahman University. The cranio-dentofacial features of this syndrome can be diagnosed by the dentist and these features can be unrecognised by the physician. The dentofacial features of the patient included a broad forehead, down slanting palpebral fissure, flat base of the nose and low junction of the ears, prominent nasolabial folds, Class III molar malocclusion, edge-to-edge bite, high arched palate, and congenitally missing teeth. The present patient was first diagnosed by a dental professional and hence, this case report aims to present this syndrome from a dental viewpoint. The treatment plan was to improve her oral hygiene, retain the deciduous tooth and space maintainer in the congenitally missing tooth to preserve space for the future prosthodontic treatment.