A case of suspected neurofibromatosis type 1 in monozygotic 13-year-old twins with submucosal cleft palate

Abstract

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder with an incidence of 1 in 3000 live births, and facial bone involvement is. Submucosal cleft palate is a rare association with this condition. This report presents monozygotic 13-year-old twins with suspected NF1 who were referred from the orthodontic department due to dental crowding and were found to have mandibular dysplastic changes along with a submucosal cleft palate, pseudo Class III malocclusion, and a missing tooth on panoramic radiography and CBCT. Monozygotic 13-year-old female twins presented to the orthodontic department with the chief complaint of dental crowding. The orthodontic team referred the patients for radiographic evaluation. Panoramic radiography and subsequent CBCT were performed. The presence of this spectrum of mandibular dysplastic changes together with a submucosal cleft palate, pseudo Class III malocclusion, and a missing tooth in both twins lacking classic cutaneous and ocular manifestations represents a rare presentation of NF1. This report highlights the importance of radiographic evaluation in orthodontic patients with unexplained dental crowding and malocclusion, particularly in twins, and emphasizes the role of multidisciplinary management including genetic counseling.