Navigating Complexity: A Case Report on a Comprehensive Dental Management Approach to Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome.

ABSTRACT: This clinical case report details the comprehensive diagnosis and dental management of a seven-year-old female patient diagnosed with the rare genetic disorder, amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS). The case initially presented as congenital adrenal hyperplasia and amelogenesis imperfecta, but further genetic analysis revealed the involvement of AIGFS due to a mutation in the FAM20A gene. Diagnosis, confirmed through whole exome sequencing, clinical assessment, and laboratory tests, necessitated a multidisciplinary approach to address the treatment of such cases. The article underscores the critical importance of diagnosing and managing dental manifestations in pediatric patients with complex genetic conditions, highlighting the difficulties of treating

SUBMITTER: Nasrallah H 

PROVIDER: S-EPMC10923614 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature