Bhandary Rahul, Jamuar Saumya Shekhar, Bhandary Srikala, Venugopalan Geethu, Abhijit Tanna Dhvani
Nitte (Deemed to be University), AB Shetty Memorial Institute of Dental Sciences, Nithyananda Nagar, Deralakatte, Mangalore, 575018, Karnataka, India.
KK Women's and Children's Hospital, Duke-NUS Institute of Precision Medicine, Singapore, Singapore.
Eur Arch Paediatr Dent. 2025 Aug 19. doi: 10.1007/s40368-025-01097-4.
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.
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.
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.
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.
贾穆阿尔综合征由一种名为UGDH（尿苷二磷酸葡萄糖6-脱氢酶）的蛋白质编码基因突变引起，是一种极为罕见的遗传性疾病，表现为颅面畸形、发育迟缓及癫痫性脑病。尽管其罕见，但正确的诊断和管理依赖于对其口腔临床表现和遗传基础的了解，以确保全面的口腔康复。
本报告中描述的贾穆阿尔病的临床特征涉及两名姐妹，分别为20岁和13岁，她们均表现出一系列与该疾病相符的症状。两个孩子都呈现出独特的身体表型，如发育迟缓、颅面畸形，以及明显的身体损伤和智力障碍。年长的姐姐患有早发性慢性局限性牙周炎，并在全身麻醉下接受了全面的牙科治疗，而年幼的妹妹患有广泛性牙龈炎，左上中切牙釉质骨折。
多个受影响的兄弟姐妹以及贾穆阿尔综合征的罕见发生强调了该疾病的遗传和家族基础。这个病例强调了在对表现出复杂临床表现的儿童进行鉴别诊断时，考虑罕见基因异常的重要性。未来对贾穆阿尔综合征的治疗方法可能会受到更多阐明其病理生理学的研究以及口腔护理计划制定的指导。
这些兄弟姐妹患有贾穆阿尔综合征这一发现增加了关于这种罕见疾病的信息，并凸显了牙科从业者对其提高认识的必要性。基因检测和家族史分析对于诊断和理解像贾穆阿尔综合征这样的罕见遗传疾病的影响至关重要。
