Clinical presentation of 17 patients with SFTPC mutations
| n | Female/male n | Gestational age | Age at onset | Neonatal symptoms n | Post neonatal symptoms n | Mechanical ventilation n (age) | Failure to thrive n | Other diagnosis n |
| All patients | ||||||||
| 17 | 10/7 | 39 (36–43) weeks | 2 (0–132) months | 9 yes, of whom: 3 RDS; 4 tachy/dyspnoea; 1 cyanosis; 1 staphylodermia | 17 yes, of whom: 17 tachypnoea, oxygen demand; 3 spontaneous pneumothorax; 2 persistent pulmonary hypertension; 2 cyanosis; 5 abnormal skeletal thorax; 17 recurrent infections of which: 5 RSV pneumonia; 2 Chlamydophilia pneumoniae pneumonia; 3 Pseudomonas aeruginosa pneumonia; 1 influenza pneumonia; 1 chronic disseminated cytomegalovirus infection; 1 methicillin-resistant Staphylococcus aureus pneumonia | 11 (1 (0–24) month) | 15 yes, of whom: 9 percutaneous endoscopic gastrostomy; 4 gastro-oesophageal reflux disease; 1 cow milk allergy | 10 yes, of whom: 5 cardiac anomalies; 2 mental retardation; 8 other diagnosis# |
| Non-BRICHOS domain mutations | ||||||||
| 10 | 6/4 | 39 (36–40) weeks | 0.3 (0–11) years | 3 yes, 1 unknown | 10 yes | 7 yes (4.8 (0–24) months) | 9 yes | 4 yes, 1 unknown |
| BRICHOS domain mutations | ||||||||
| 7 | 4/3 | 39 (36–43) weeks | 0 (0–3) months | 6 yes | 7 yes | 4 yes (0 (0–19) months) | 5 yes | 5 yes |
| p-value¶ | 0.06 | ns | ns | ns | ns |
Data are presented as median (range), unless otherwise stated. RDS: respiratory distress syndrome; RSV: respiratory syncytial virus; PEG: percutaneous endoscopic gastrostomy; ns: not significant. #: see table s1 in the online supplementary material ¶: Fisher's exact test comparing frequencies between BRICHOS/non-BRICHOS mutations.