Mohsin Syed Fareed, Alrodhan Azzam Mansour, Aruveeti Yasin Alavi, Kavarodi Abdul Majeed, Rehman Ambreen, Almutairi Abdulaziz Naife
Department of Oral and Maxillofacial Diagnostic Sciences, College of Dentistry, Qassim University, Buraydah, Saudi Arabia.
Department of Oral and Maxillofacial Surgery, Maternity and Children Hospital, Buraydah, Saudi Arabia.
Ann Maxillofac Surg. 2025 Jan-Jun;15(1):121-123. doi: 10.4103/ams.ams_211_24. Epub 2025 May 19.
Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder characterised by aberrant growth patterns, tumour risk and a wide range of clinical symptoms. This illness necessitates a multidisciplinary strategy to address the metabolic, multi-organ and structural issues of considerable health concern.
A 56-day-old infant presents with macroglossia due to BWS.
On examination, the infant revealed an enlarged protruded tongue causing difficulty in sleeping, feeding and breathing.
The infant underwent a successful anteroposterior keyhole glossectomy, which improved his airway function, eating and overall quality of life. Tongue tissue was carefully excised and anatomically reconstructed to enhance the function.
The patient was followed for up to 22 months; the results were acceptable, with the tongue in its normal position, improved breathing and no feeding issues.
TAKE-AWAY LESSON: In this case report, early intervention improved respiratory function, obstructive sleep apnoea/hypopnoea syndrome and encouraged normal growth and development.
贝克威思-维德曼综合征(BWS)是一种罕见的遗传性疾病,其特征为生长模式异常、有肿瘤风险以及一系列广泛的临床症状。这种疾病需要采取多学科策略来解决涉及重大健康问题的代谢、多器官和结构问题。
一名56天大的因贝克威思-维德曼综合征出现巨舌症的婴儿。
检查发现,该婴儿舌头肿大突出,导致睡眠、进食和呼吸困难。
该婴儿成功接受了前后路锁孔舌切除术,改善了气道功能、进食情况及整体生活质量。舌头组织被小心切除并进行解剖重建以增强功能。
对患者进行了长达22个月的随访;结果令人满意,舌头处于正常位置,呼吸改善,无进食问题。
在本病例报告中,早期干预改善了呼吸功能、阻塞性睡眠呼吸暂停/低通气综合征,并促进了正常生长发育。