Phenotype | Proportion of CCHS patients affected n (%) | |
PARM | NPARM | |
Continuous ventilatory support | 111/314 (35%) | 38/57 (67%) |
Hirschsprung disease* | 95/493 (19%) | 53/66 (80%) |
Neural crest tumor¶ | 4/344 (1%) | 11/27 (41%) |
Data from: Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, et al. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med 2010; 181:626.
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