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Table 3 CHARGE Associations and Other Anomalies

From: A national study of choanal atresia in tertiary care centers in Canada – part I: clinical presentation

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)
  1. Note. VSD Ventricular septal defect, ASD Atrial septal defect, PDA Patent ductus arteriosus, CNS Central nervous system, SNHL Sensorineural hearing loss