Table 2 Frequency of the 13 main lesions in participants with CHARGE syndrome (CS) to calculate the global somatic severity score (n = 64)
Lesions | n/n with available data (%) |
|---|---|
Inner-ear and semi-circular canals malformation | 61/64 (95) |
Repetitive ear infections | 37/50 (74) |
Coloboma | 46/61 (75.4) |
Cardiac malformation | 38/61 (62.3) |
Bone anomalies | 27/47 (57.4) |
Genital anomalies and puberty delay | 24/47 (51.1) |
Growth retardation | 25/55 (45.5) |
Facial palsy | 22/48 (45.8) |
Kidney and urinary tract malformation | 17/53 (32.1) |
Choanal atresia | 22/59 (37.3) |
Lip and palate cleft | 10/58 (17.2) |
Esophageal atresia | 14/48 (29.2) |
Microcephaly | 20/55 (36.4) |