Table 3 CHARGE Associations and Other Anomalies
Variable | Category | CHARGE group (n = 35) No. (%) | Total (n = 215) No. (%) |
|---|---|---|---|
(C) Coloboma and/or micropthalmia | Coloboma | 10 (28.6) | 20 (9.3) |
Micropthalmia | 2 (5.7) | 4 (1.9) | |
Visual impairment | 3 (8.6) | 3 (1.4) | |
(H) Heart defects | VSD | 14 (40.0) | 20 (9.3) |
ASD | 14 (40.0) | 17 (7.9) | |
PDA | 4 (11.4) | 12 (5.6) | |
patent foramen ovale | 2 (5.7) | 5 (2.3) | |
Aortic arch anomaly | 0 (0) | 2 (0.9) | |
Tetralogy of the heart | 1 (2.9) | 2 (0.9) | |
Other heart anomalies | 7 (20.0) | 12 (5.6) | |
(A) Atresia of the choana | Choanal atresia | 35 (100) | 215 (100) |
(R) Retarded growth and development | Retarded growth | 4 (11.4) | 6 (2.8) |
Developmental delay | 5 (14.3) | 7 (3.3) | |
CNS anomalies | 6 (17.1) | 18 (8.4) | |
(G) Genital hypoplasia | Undescended testes | 6 (17.1) | 6 (2.8) |
Micropenis | 3 (8.6) | 3 (1.4) | |
Labial adhesions | 1 (2.9) | 1 (0.5) | |
Undefined genital anomalies | 1 (2.9) | 1 (0.5) | |
(E) Ear anomalies and/or hearing loss | Ear anomalies | 14 (40.0) | 16 (7.4) |
SNHL | 13 (37.1) | 19 (8.8) | |
Conductive hearing loss | 1 (2.9) | 1 (0.5) | |
Other dysmorphic features | Dysmorphic facial features | 11 (31.4) | 28 (13.0) |
Strabismus/Proptosis | 0 (0) | 6 (2.8) | |
Micro/retrognathia | 2 (5.7) | 9 (4.2) | |
Digital anomalies | 2 (5.7) | 12 (5.6) | |
Upper limb defects | 1 (2.9) | 3 (1.4) | |
Foot anomalies | 2 (5.7) | 5 (2.3) | |
Undefined dysmorphic features | 7 (20.0) | 15 (7.0) | |
Palatal Anomalies | Cleft lip and/or palate | 2 (5.7) | 20 (9.3) |
High-arched palate | 1 (2.9) | 2 (0.9) | |
Airway abnormalities | Tracheoesophageal fistula | 3 (8.6) | 5 (2.3) |
Tracheomalacia | 3 (8.6) | 5 (2.3) | |
Tracheal stenosis | 0 (0) | 3 (1.4) | |
Laryngeal abnormalities | 4 (11.4) | 17 (7.9) | |
Obstructive sleep apnea | 1 (2.9) | 2 (0.9) | |
Other Anomalies/Conditions | Facial nerve palsy | 3 (8.6) | 4 (1.9) |
Hypothalamo-hypophyseal | 2 (5.7) | 3 (1.4) | |
Urinary tract | 9 (25.7) | 19 (8.8) | |
Gastro-intestinal | 7 (20.0) | 14 (6.5) | |
Skeletal (excluding limb defects) | 3 (8.6) | 9 (4.2) | |
Pulmonary | 2 (5.7) | 3 (1.4) |