Table 1:

Characteristics for 23 patients with CHARGE syndrome in our case series

Characteristics
Median age (range)	20 Mo (3 days to 16 yr)
Males	15
Females	8
Criteria of Blake et al⁵ satisfied^{^a}
Typical CHARGE syndrome	12
Negative	8
Missing data	3
Criteria of Verloes⁶ satisfied^{^a}
Typical CHARGE syndrome	12
Partial CHARGE syndrome	0
Atypical CHARGE syndrome	5
Negative	0
Missing data	6
Criteria of Hale et al⁷ criteria satisfied^{^a}	23
Mutation type (n = 23)^{^b}
Truncating (nonsense, frameshift, deletion)	17
Nontruncating (missense)	2
Splice site	4

↵a See On-line Table 1.
↵b Truncating mutations (nonsense or frameshift) lead to a decrease in CHD7 protein. Nontruncating (missense) mutations lead to production of an altered CHD7 protein, which may have residual function. Splice site mutations may have truncating or nontruncating effects.