Nablus mask-like facial syndrome: Case report

Authors

Keywords:

Craniofacial Abnormalities; Human Genetics; Persons with Disabilities; Tooth Abnormalities; Macroglossia.

Abstract

Nablus Mask-Like Facial Syndrome (NMLFS) is a rare genetic condition that presents craniofacial dysmorphisms and significant oral alterations, such as submucous cleft palate, maxillary hypoplasia, and dental anomalies, compromising essential functions like chewing, speech, and aesthetics. Given the scarcity of available literature and the relevance of the dentist's role in the comprehensive care of patients with rare syndromes, the present work aims to review the clinical, craniofacial, and dental aspects of NMLFS, highlighting the importance of early diagnosis and individualized therapeutic planning, and to present a case report of a 19-year-old patient who attended the dental clinic at University Brazil for dental care and prevention. It was concluded, after the care and literature review, that an interdisciplinary and integrated approach between medical genetics, pediatric neurology, and hospital dentistry is extremely important. The interventions carried out demonstrated appropriate follow-up, aiming at quality of life, with the continuity of follow-up being fundamental for clinical control, minimization of sequelae, and improvement of cognitive, linguistic, and social functions. In this context, investment in the training of dental teams and specific research is essential for improving the diagnosis, clinical management, and quality of life of individuals affected by NMLFS, reinforcing the role of the dentist as a fundamental part of the multidisciplinary care network.

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Published

07/11/2025

How to Cite

Paiva, D. S., Santos, M. P. dos ., Silva, T. V. L., Cordeschi, T., & Vieira, D. M. (2025). Nablus mask-like facial syndrome: Case report. E-Acadêmica, 6(3), e0463659. Retrieved from https://eacademica.org/eacademica/article/view/659

Issue

Section

Health and Biological Sciences