Finnström O, Odkvist L, Afzelius B A
Int J Pediatr Otorhinolaryngol. 1980 Apr;2(1):33-7. doi: 10.1016/0165-5876(80)90026-9.
A newborn infant was suspected to have the immotile-cilia syndrome. He had situs inversus, atelectasis and other pulmonary changes. A biopsy from the nasal mucosa at the age of 21 months confirmed the diagnosis and showed a lack of ciliary orientation and absent dynein arms. Chymotrypsin values, sweat test and most immunoglobulins were normal. The boy is now three years old. So far he has had rather mild respiratory symptoms. The importance of early diagnosis for management and prognosis is stressed.
一名新生儿被怀疑患有不动纤毛综合征。他有内脏反位、肺不张和其他肺部改变。21个月大时从鼻黏膜取活检确诊，显示纤毛方向缺失和动力蛋白臂缺如。胰凝乳蛋白酶值、汗液试验和大多数免疫球蛋白均正常。这个男孩现在三岁。到目前为止，他的呼吸道症状相当轻微。强调了早期诊断对治疗和预后的重要性。
