Clinical details
Gender M F M M
Sitis inversus Yes Yes No Yes
Respiratory distress at birth No No Yes No
Consanguinous parents Yes Yes No No
Results from initial diagnosis
Nasal nitric oxide N/A N/A N/A N/A
CBF (Hz) 15.6 14.5 16.3 10.2
Cilia beat pattern dyskinetic dyskinetic dyskinetic dyskinetic
% IDA absent at TEM 79 53 55 25
Age 4yrs 10yrs 1yr 3yrs
ENT symptoms Yes Yes Yes Yes
Lower respiratory tract symptoms Yes Yes Yes Yes
Results at review
Nasal nitric oxide (ppb) 700 605 276 503
CBF (Hz) 8.5 10.9 13.3 11.5
Cilia beat pattern co-ordinated co-ordinated co-ordinated co-ordinated
%IDA absent at TEM 0 3 0 5
Age 7yrs 15yrs 7yrs 14yrs
ENT symptoms Yes No No No
Lower respiratory tract symptoms Yes No No Yes
Prescence of IDA component DNALI1 Yes Yes Yes Yes
Table 2: Diagnostic test results for patients with normal ultrastructure at review.