Hafidh Maky A, Sheahan Patrick, Russell John D
Department of Paediatric Otolaryngology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
Int J Pediatr Otorhinolaryngol. 2004 Apr;68(4):469-72. doi: 10.1016/j.ijporl.2003.10.005.
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that is characterized by skin manifestations, juvenile cataracts, and extracutaneous manifestations. The presence of congenital airway abnormalities has not previously been documented in Rothmund-Thomson syndrome. We report the case of a child with Rothmund-Thomson syndrome suffering from multiple airway abnormalities. Our case highlights the importance of suspecting multiple airway abnormalities in any child with respiratory distress with other systemic anomalies. This necessitates meticulous anatomical and dynamic examination of the laryngotracheo-broncheal tree.
罗思蒙德-汤姆森综合征(RTS)是一种罕见的常染色体隐性疾病,其特征为皮肤表现、青少年白内障和皮肤外表现。此前尚未有文献记载罗思蒙德-汤姆森综合征患者存在先天性气道异常。我们报告了一例患有罗思蒙德-汤姆森综合征且伴有多种气道异常的儿童病例。我们的病例强调了对于任何伴有呼吸窘迫及其他全身异常的儿童,怀疑其存在多种气道异常的重要性。这就需要对喉气管支气管树进行细致的解剖学和动态检查。