Birchall Martin A, Lam Chon Meng, Wood Gary
Department of Otolaryngology, Royal National ENT and Eastman Dental Hospitals, University College Hospitals NHS Foundation Trust and University College London, London, UK.
University Hospitals of Leicester NHS Trust, Leicester, UK.
Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):527-532. doi: 10.1002/ajmg.c.31956. Epub 2021 Nov 20.
A small number of case reports and observational studies describe chronic nasal congestion, upper airway obstruction, dysphonia, vocal cord abnormalities, and swallowing abnormalities in the Ehlers-Danlos syndromes. Little is known of the causes and therefore treatments of these, yet they are not uncommon findings in persons with hypermobility-related conditions presenting in the healthcare setting. We have a specialist multidisciplinary ear, nose, and throat and speech therapy practice with accumulating observational and empirical experience of managing these conditions, which include altered voice, choking, high dysphagia and anterior and deep neck pains. Here, we present our experience, some illustrative cases, and suggestions for future work in this evolving field.
少数病例报告和观察性研究描述了埃勒斯-当洛综合征中的慢性鼻充血、上气道阻塞、发音障碍、声带异常和吞咽异常。对于这些症状的病因及治疗方法知之甚少,但在医疗环境中出现的与关节过度活动相关病症的患者中,这些症状并不罕见。我们拥有一个专业的多学科耳鼻喉科和言语治疗科室,在处理这些病症方面积累了丰富的观察和实践经验,这些病症包括声音改变、呛噎、严重吞咽困难以及颈部前方和深部疼痛。在此,我们介绍我们的经验、一些典型病例以及对这个不断发展领域未来工作的建议。