Table 1.
Details of our cohort of patients with CHARGE syndrome
| Patients (number) 16 | |
|---|---|
| Demographics at the time of our study | |
| Age range (years) | 4–21 |
| Median age (years), SD age (years) | 10, ± 6 |
| Gender (M) | 8 |
| Genetics | |
| CDH7 mutation | 16 |
| Frameshift | 4 |
| Nonsense | 5 |
| Missense | 2 |
| Splicing | 5 |
| Major features (%) n | |
| Choanal atresia/stenosis | (19) 3 |
| Cranial nerve dysfunction | (75) 12 |
| Ocular coloboma | (81) 13 |
| Ear abnormalities | (100) 16 |
| Minor features (%) n | |
| Cardiovascular malformations | (56) 9 |
| Retardation of growth | (81) 13 |
| Retardation of development | (100) 16 |
| Cleft palate | (25) 4 |
| Oesophageal Atresia and/or tracheoesophageal fistula | (12) 2 |
| Tracheomalacia | (6) 1 |
| Genitourinary malformations | (37) 6 |
SD standard deviation