Table 1.
Clinical findings in OARS patients in our sample
| Oculo-auriculo-vertebral spectrum (OAVS) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Clinical findings | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | Total |
| Sex | F | F | F | M | M | M | M | M | M | M | M | M | M-9 / F-3 |
| Ethnic group | C | M | C | C | C | M | C | C | C | C | C | C | C-2 / M-2 |
| Age at first visit | 1y | 6m | 2m | 2d | 1d | 17y | 2d | 1m | 6d | 2m | 5y | 1m | 1d - 17y |
| Strömland et al.'s criteria (2007)11 | 3 | 2 | 3 | 2 | 4 | 2 | 2 | 2 | 2 | 2 | 3 | 2 | 2-8 / 3-3 / 4-1 |
| Low height | + | + | + | + | 4 | ||||||||
| Craniofacial anomalies | + | + | + | + | + | + | + | + | + | + | + | 11 | |
| Facial hypoplasia (asymmetry) | L | L | L | L | L | L | L | R | L-7 / R-1 | ||||
| Facial palsy | L | L | L | R | L-3 / R-1 | ||||||||
| Others | + | + | + | + | + | + | + | + | + | 9 | |||
| Eye anomalies | + | + | 2 | ||||||||||
| Ear anomalies | + | + | + | + | + | + | + | + | + | + | + | + | 12 |
| - External ear | + | + | + | + | + | + | + | + | + | + | + | + | 12 |
| Preauricular appendages | R | R | L | R | R | B | L | L | L-3 / R-4 / B-1 | ||||
| Microtia | + | + | + | + | + | + | + | + | + | + | + | + | 12 |
| Grade I | L | B | L | B | L-2 / B-2 | ||||||||
| Grade II | L | L-1 | |||||||||||
| Grade III | L | R | L | L | L | L | R | L-5 / R-2 | |||||
| Grade IV | B | B-1 | |||||||||||
| Agenesis of the outer ear canal | L | L | L | L | L | L | B | L | L-7 / R-1 / B-1 | ||||
| Stenotic outer ear canal | L | R | L-1 / R-1 | ||||||||||
| - Middle ear | + | + | + | + | + | + | + | + | 8 | ||||
| Opacified middle ear | R | R | R-2 | ||||||||||
| Agenesis of the middle ear | B | B-1 | |||||||||||
| Hypoplasic tympanic cleft | R | R-1 | |||||||||||
| Agenesis of the tympanic cleft | L | L-1 | |||||||||||
| Hypoplasic ossicular chain | L | L-1 | |||||||||||
| Displaced ossicular chain | L | B | L-1 / B-1 | ||||||||||
| Malformed ossicular chain | L | R | L-1 / R-1 | ||||||||||
| Widened tympanic cavity | L | L | L-2 | ||||||||||
| Decreased tympanic cavity | L | L-1 | |||||||||||
| - Inner ear | + | + | + | 3 | |||||||||
| Hypoplasic inner ear | L | L-1 | |||||||||||
| Agenesis of the inner ear canal | B | L | L-1 / B-1 | ||||||||||
| Altered cochlear morphology | L | L-1 | |||||||||||
| Altered semicircular canals | L | L-1 | |||||||||||
| Temporal bone anomalies | + | + | + | + | + | 5 | |||||||
| Non-aerated mastoid | L | B | B | B | B | L-1 / B-4 | |||||||
| Lengthened mastoid antrum | B | B-1 | |||||||||||
| Esophageal/lung anomalies | + | + | + | + | + | + | 6 | ||||||
| Congenital cardiopathies | + | + | + | + | + | + | + | 7 | |||||
| Abdominal anomalies | + | + | + | + | 4 | ||||||||
| Skeletal anomalies | + | + | + | + | + | + | 6 | ||||||
| CNS anomalies | + | + | + | + | + | 5 | |||||||
M: male; F: female; C: Caucasian; M: mixed color; d: day(s); m: month(s); y: year(s); NA: not applicable; NE: not examined; L: left; R: right; B: bilateral.