Subject | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | |
Sex | M | M | F | F | M | M | M | M | F | F |
Age at MRI (yr) | 1 | 2 | 18 | 1 | 1 | 7 | 4 | 8 mo | 1 | 19 |
Major criteria | ||||||||||
Coloboma | + | + | + | + | + | |||||
Choanal atresia | + | + | ||||||||
SCC hypoplasia | + | + | + | + | + | + | + | + | + | + |
Minor criteria | ||||||||||
Rhombencephalic dysfunction | +1,2 | +1,2 | +1 | +1,2 | +1,2 | +1 | +1 | +2 | +1,2 | |
Hypothalamohypophyseal dysfunction | +3 | +4 | +4 | +3 | +4 | +4 | +4 | |||
Malformation of ear | +5,6 | +6 | +6 | +5,6 | +6 | +6 | +6 | +6 | +6 | +6 |
Malformation of mediastinum | +7 | +7 | +7 | +7 | +7 | +7 | +7,8 | +7 | ||
Mental retardation | + | + | + | + | + | |||||
Typical CHARGE | + | + | + | + | + | |||||
Atypical CHARGE | + | + | + | + | + |
Note:— + indicates present criteria; +1, cochlear nerve hypoplastic or absent; +2, brain stem hypoplasia; +3, undescended testes; +4, growth delay; +5, external ear malformation; +6, inner ear malformation; +7, cardiac malformation; +8, tracheoesophageal fistula.