Sharma Kanupriya, Jamdade Anshuman, Yadav Satya P, Aggarwal Amrita
Department of Oral Medicine and Radiology, Mahatma Gandhi Dental College and Hospital, Jaipur, Rajasthan, India.
Int J Clin Pediatr Dent. 2024 Jun;17(6):702-705. doi: 10.5005/jp-journals-10005-2873.
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by disrupted genomic imprinting, leading to abnormal regulation of fetal growth. BWS can present at any stage of life; it is most commonly diagnosed during the neonatal period or early childhood. The cardinal features of the syndrome include macrosomia, macroglossia, abdominal wall defects, and hyperinsulinism. We have discussed the case report of a 2-year-old female patient who was diagnosed with BWS at the time of birth, with a chief complaint of a large tongue and difficulty in deglutition. We have also discussed the systemic, orofacial, and dental manifestations along with comprehensive treatment planning to aid in living an overall healthy life. Early diagnosis helps in preventing further complications of the disease and acts as a guide for future treatment planning. Dentists can provide guidance on proper oral hygiene practices, offer interventions to manage macroglossia, and collaborate with other healthcare professionals to address craniofacial abnormalities and associated functional limitations.
Sharma K, Jamdade A, Yadav SP, Bridging the Gaps: Multidisciplinary and Dental Strategies for Beckwith-Wiedemann Syndrome Management. Int J Clin Pediatr Dent 2024;17(6):702-705.
贝克威思-维德曼综合征（BWS）是一种遗传性疾病，其特征是基因组印记紊乱，导致胎儿生长调节异常。BWS可在生命的任何阶段出现；最常在新生儿期或幼儿期被诊断出来。该综合征的主要特征包括巨大儿、巨舌、腹壁缺陷和高胰岛素血症。我们讨论了一名2岁女性患者的病例报告，该患者出生时被诊断为BWS，主要症状为舌头大及吞咽困难。我们还讨论了全身、口面部和牙齿表现以及全面的治疗计划，以帮助患者过上整体健康的生活。早期诊断有助于预防疾病的进一步并发症，并为未来的治疗计划提供指导。牙医可以提供正确口腔卫生习惯的指导，提供处理巨舌的干预措施，并与其他医疗保健专业人员合作，以解决颅面异常和相关的功能限制。
夏尔马K、贾姆达德A、亚达夫SP，《弥合差距：贝克威思-维德曼综合征管理的多学科和牙科策略》。《国际临床儿科牙科学杂志》2024年；第17卷（第6期）：702 - 705页。
