Wang Wenlin, Vishnu Rajkamal, Long Weiguang, Liu Yang
Department of Chest Wall Surgery, Guangdong Second Provincial People's Hospital, Guangzhou, 510422, China.
Department of Cardiothoracic Surgery, Center for Rib Cage Disorders, SRM Institutes for Medical Science, Chennai 600026, India.
Interdiscip Cardiovasc Thorac Surg. 2025 Sep 1;40(9). doi: 10.1093/icvts/ivaf191.
Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare and serious genetic condition; its incidence in adult populations is even rarer. A 25-year-old male had a 10-year history of chest wall deformity and progressive dyspnoea. A complex chest wall reconstruction, along with the excision of bone tumours, was performed in view of critical hypoxia. Mechanical ventilation was persistently required postoperatively. However, the patient did improve, and eventually proper chest configuration was restored with a special surgical technique. Histopathological analysis demonstrated the presence of multiple osteochondromas of the ribs. To the best of our knowledge, this is the first reported case of secondary ATD caused by osteochondromas of the ribs.
窒息性胸廓发育不良(ATD),也称为热纳综合征,是一种罕见且严重的遗传性疾病;其在成年人群中的发病率更为罕见。一名25岁男性有10年胸壁畸形和进行性呼吸困难病史。鉴于严重缺氧,进行了复杂的胸壁重建以及骨肿瘤切除手术。术后持续需要机械通气。然而,患者确实有所改善,最终通过一种特殊的手术技术恢复了正常的胸部形态。组织病理学分析显示肋骨存在多个骨软骨瘤。据我们所知,这是首例由肋骨骨软骨瘤引起的继发性ATD病例。