The immotile-cilia syndrome in a newborn infant

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.