Table 2. Type and frequency of anomalies among patients with oculo-auriculo-vertebral spectrum (OAVS).
| Type of anomaly | Patients N=259 (%) | Rollnick et al,4 N=294 | Vento et al,28N=154 | Tasse et al,5 N=53 | Toulitaou et al,29 N=17 |
|---|---|---|---|---|---|
| Ear | 259 (100) | 294 (100) | 53 (100) | 17 (100) | |
| Microtia/misshapen/dysplastic/rudimentary eara | 230 (88.8) | 16 (94) | |||
| Preauricular skin taga | 115 (44.4) | 61 (39.6) | 10 (59) | ||
| Atresia/stenosis of external auditory canal | 65 (25.1) | 9 (53) | |||
| Absence of auricle | 24 (9.3) | ||||
| Accessory auricle | 23 (8.9) | ||||
| Anotia | 17 (6.6) | ||||
| Preauricular pits/sinusa | 6 (2.3) | ||||
| Other | 17 (6.6) | ||||
| Eye | 63 (24.3) | 52 (18) | 13 (24.5)b | 11 (65) | |
| Epibulbar dermoids | 20 (7.7) | 9 (4.4) | 32 (20.7) | 11 (20.7) | 2 (12) |
| Epicanthusa | 14 (5.4) | 12 (75) | |||
| Microphthalmia | 14 (5.4) | 5 (9.4) | 6 (35) | ||
| Coloboma of eyelid | 10 (3.9) | 4 (7.5) | 2 (12) | ||
| Coloboma of iris | 4 (1.5) | 1 (6) | |||
| Anophthalmia | 4 (1.5) | 2 (3.7) | |||
| Aniridia | 1 (0.4) | ||||
| Absence of lens | 1 (0.4) | ||||
| Other | 8 (3.1) | ||||
| Orofacial clefts | 46 (17.8) | 66 (22) | 21 (40) | 5 (29) | |
| Cleft lip and palate | 21 (8.1) | 21 (7) | 5 (9.4) | ||
| Cleft palate | 17 (6.6) | 45 (15) | 5 (9.4) | ||
| Cleft lip | 7 (2.7) | 2 (3.7) | |||
| Orofacial clefts, other | 11 (4.2) | 9 (16.9) | |||
| Face and neck | 145 (56.0) | 13 (76) | |||
| Hemifacial microsomia, including asymmetry of the facea, micrognathia, mandibular hypoplasia, and anomalies of jaw size | 127 (49.0) | 202 (68.7) | 44 (83) | 10 (59) | |
| Anomalies of the nose | 9 (3.5) | 1 (6) | |||
| Facial palsy | 9 (3.5) | 24 (45) | |||
| Branchial cysta | 9 (3.5) | ||||
| Macrostomiaa | 6 (2.3) | 95 (61.6) | |||
| Tongue anomaly | 4 (1.5) | ||||
| Vertebral | 63 (24.3) | 55 (18.7) | 29 (18.8) | 10 (19) | 3 (18%) |
| Cervical | 17 (6.6) | ||||
| Cervical anomaly NOS | 10 (3.9) | ||||
| Hemivertebre cervical | 4 (1.5) | ||||
| Split cervical vertebrae | 1 (0.4) | ||||
| Fussed cervical vertebrae | 2 (0.8) | ||||
| Thoracic/lumbar/sacral | 13 (5.0) | ||||
| Thoracic vertebrae anomaly NOS | 8 (3.1) | ||||
| Lumbar vertebrae anomaly NOS | 2 (0.8) | ||||
| Accessory lumbar vertebrae | 1 (0.4) | ||||
| Agenesis lumbar vertebrae | 1 (0.4) | ||||
| Sacral agenesis | 1 (0.4) | ||||
| Hemivertebrae NOS | 14 (5.4) | ||||
| Spine scoliosis | 8 (3.1) | ||||
| Spine NOS | 18 (6.9) | ||||
| Rib anomalies | 18 (6.9) | 12 (7.8) | |||
| Congenital heart defects | 72 (27.8) | 14 (5) | 8 (15) | 3 (18) | |
| Ventricular septal defect | 31 (12.0) | 5 (9.4) | |||
| Atrial septal defect | 13 (5.0) | ||||
| Pulmonary valve stenosis | 8 (3.1) | ||||
| Atrioventricular septal defect | 6 (2.3) | 1 (1.8) | |||
| Dextrocardia | 6 (2.3) | 1 (1.8) | |||
| Transposition of great arteries | 4 (1.5) | ||||
| Tetralogy of Fallot | 4 (1.5) | ||||
| Aortic valve stenosis | 3 (1.2) | 1 (1.8) | |||
| Coarctation of aorta | 3 (1.2) | 1 (1.8) | |||
| Hypoplastic aorta | 3 (1.2) | ||||
| Double outlet right ventricle | 2 (0.8) | ||||
| Hypoplastic left heart syndrome | 1 (0.4) | ||||
| Aortopulmonary window | 1 (0.4) | ||||
| Abnormal subclavian artery | 1 (0.4) | ||||
| Congenital heart disease, NOS | 4 (1.5) | ||||
| Respiratory system | 13 (5.0) | 2 (0.6) | - | ||
| Choanal atresia | 4 (1.5) | ||||
| Lobar anomaly of the lungs | 4 (1.5) | ||||
| Lung hypoplasia | 4 (1.5) | ||||
| Tracheomalaciaa | 1 (0.4) | ||||
| Laryngomalaciaa | 1 (0.4) | ||||
| Digestive system | 20 (7.7) | 6 (2) | 2 (12) | ||
| Oesophageal atresia with tracheo-oesophageal fistula | 7 (2.7) | ||||
| Anorectal stenosis/atresia | 4 (1.5) | ||||
| Imperforate anus | 3 (1.2) | ||||
| Diaphragmatic hernia | 2 (0.8) | ||||
| Pyloric stenosisa | 2 (0.8) | ||||
| Annular pancreas | 1 (0.4) | ||||
| Small intestine stenosis | 1 (0.4) | ||||
| Hirschsprung's disease | 1 (0.4) | ||||
| Genitourinary | 41 (15.8) | 16 (5) | 9 (16.9) | 4 (23) | |
| Renal agenesis, unilateral | 12 (4.6) | 2 (3.7) | |||
| Anomalies of ureter | 9 (3.5) | ||||
| Congenital hydronephrosis | 8 (3.1) | 1 (18) | |||
| Renal hypoplasia/dysplasia | 7 (2.7) | 1 (1.8) | |||
| Hypospadias | 7 (2.7) | 2 (3.7) | |||
| Cystic kidney | 3 (1.2) | ||||
| Horseshoe kidney | 2 (0.8) | ||||
| Duplex kidney | 1 (0.4) | ||||
| Cyst of urachus | 1 (0.4) | ||||
| Limb defects | 30 (11.6) | 33 (11) | 26 (16.8) | 6 (11.3) | 4 (23) |
| Polydactyly | 7 (2.7) | ||||
| Radial defects of hands | 6 (2.3) | ||||
| Congenital hip dislocation | 5 (1.9) | ||||
| Pes equinovarus | 4 (1.5) | ||||
| Syndactyly | 4 (1.5) | ||||
| Bifid thumb | 3 (1.2) | ||||
| Camptodactyly | 2 (0.8) | ||||
| Low set thumbsa | 2 (0.8) | ||||
| Pes calcaneovalgus | 1 (0.4) | ||||
| Forearm anomalies NOS | 3 (1.2) | ||||
| Nervous system | 27 (10.4) | 38 (13) | 8 (15) | 5 (29)c | |
| Neural tube defects (including encephalocele) | 6 (2.3) | ||||
| Hydrocephaly | 5 (1.9) | 1 (1.8) | |||
| Ventriculomegaly | 5 (1.9) | 1 (1.8) | |||
| Agenesis of corpus callosum | 5 (1.9) | ||||
| Agenesis/hypoplasia of cerebellum | 4 (1.5) | ||||
| Cerebral cyst | 2 (0.8) | ||||
| Aqueductus stenosis | 1 (0.4) | ||||
| Cerebral anomaly NOS | 4 (1.5) | ||||
| Situs viscerum inversus | 1 (0.4) |
Abbreviation: NOS, not otherwise specified; individuals with more than one anomaly within a category were counted only once.
a
These anomalies are considered minor according to the EUROCAT criteria and not are not systematically recorded in some registries.
b
Epibulbar dermoids excluded.
c
Facial nerve palsy included.