Clinical insights into dental care for siblings with Jamuar syndrome: a rare genetic dual case report.

Abstract

Introduction: Jamuar syndrome, caused by a mutation in a protein-coding gene called the UGDH (UDP-glucose 6-dehydrogenase), is an extremely rare genetic condition that presents with craniofacial dysmorphisms, developmental delay and epileptic encephalopathy. Despite its rarity, a proper diagnosis and management depends on the knowledge of its oral clinical presentation and genetic foundation to ensure thorough oral rehabilitation.

Case presentation: The clinical characteristics of Jamuar disease described in this report are of two siblings, 20- and 13-year-old sisters, who both displayed a constellation of symptoms consistent with the disease. Both the children displayed unique physical phenotypes, such as developmental delays and craniofacial dysmorphism, along with distinct physical impairments and intellectual difficulties. The older sibling presented with early onset chronic localized periodontitis and comprehensive dental treatment was carried out under general anaesthesia, while the younger sibling had generalized gingivitis and an enamel fracture with upper left central incisor.

Discussion: Multiple affected siblings and the rare occurrence of Jamuar syndrome emphasize the hereditary and familial basis of the condition. This instance emphasizes how crucial it is to take uncommon genetic abnormalities into account when making a differential diagnosis for children who exhibit complicated clinical presentations. Future treatment approaches for Jamuar syndrome may be guided by more research that clarifies its pathophysiology, and the formulation of an oral care plan.

Conclusions: The discovery that these siblings have Jamuar syndrome adds to the expanding amount of information about this uncommon condition and highlights the need for dental practitioners to be more cognizant of it. Genetic testing and family history analysis are essential for diagnosing and understanding the implications of rare genetic conditions like Jamuar syndrome.