Clinical Findings in Children with Noonan Syndrome—A 17-Year Retrospective Study in an Oral Surgery Center

Abstract

To date, only a limited number of publications have studied the specific oral and maxillofacial findings in patients diagnosed with Noonan syndrome (NS), which is an example of a genetically heterogeneous RASopathy. In this retrospective study, we aimed to ascertain the genotype–phenotype correlations between genetic mutations and certain diagnoses in the field of oral surgery. We collected surgical and genetic data from 42 children (median age, 12 years) who had a confirmed diagnosis of NS and underwent surgery in the Department of Oral Surgery, Medical University of Lodz, over a 17-year period, from 2004 to 2021. In total, 17 patients with mutations of the PTPN11 gene were diagnosed with over-retained deciduous teeth and supernumerary teeth. An amount of 7 patients with mutations of the SOS1 gene were diagnosed with mandibular compound odontomas. Finally, 12 patients with mutations of the LZTR1 gene were diagnosed with bilateral or unilateral central giant cell granulomas in the mandible. Although craniofacial features of many genetic disorders have been previously described in the literature, this study determined the genotype–phenotype correlations in the field of oral surgery.

Maxillary Odontoma Associated With Noonan Syndrome: A Case Report

“…A thorough medical and family history assessment and examination focusing on distinctive features may not be enough. Therefore, it is recommended that these children undergo evaluation by clinical geneticists to interpret gene mutations, enabling appropriate treatment for this patient population [ 8 ]. Gürsoy et al examined the oral, facial, clinical, and molecular traits of individuals with NS [ 9 ].…”

Challenges in Communicating a Genetic Diagnosis

“…In this Special Issue, the authors explain the complexity of diagnosing and communicating diagnoses of rare genetic entities, such as Noonan Syndrome, MECP2 duplication syndromes, Nieman-Pick type C disease, Pompe disease, hypohidrotic ectodermal dysplasia, retropharyngeal synovial cell carcinoma, 22q.11.2 deletion syndrome, and Pfeiffer syndrome [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 ].…”