Table 1.
Patient demographics and systemic findings.
| Total (n = 37) | Stickler Syndrome Type 1 (n = 30) |
Stickler Syndrome Type 2 (n = 7) |
|
|---|---|---|---|
| Male:Female | 17:20 | 15:15 | 2:5 |
| Mean (range) age at first visit (yrs) | 19.6 (0.25–56) | 18.7 (0.25–56) | 23.4 (0.25–56) |
| Mean (range) follow-up duration (yrs) |
5.2 (0–19) | 5.6 (0–19) | 3.4 (0–12) |
| Associated systemic features (%) | |||
| Hearing difficulties † |
12 (32.4) | 9 (30.0) | 3 (42.9) |
| Orofacial abnormalities |
17 (45.9) | 14 (46.7) | 3 (42.9) |
| Cleft palate | 14 (37.8) | 12 (40.0) | 2 (28.6) |
| Others ‡ | 4 (10.8) | 3 (10.0) | 1 (14.3) |
| Skeletal abnormalities |
13 (35.1) | 13 (43.3) | 0 (0) |
| Spondyloepiphyseal dysplasia | 5 (13.5) | 5 (16.7) | 0 (0) |
| Others * | 11 (29.7) | 11 (36.7) | 0 (0) |
† High-frequency sensorineural hearing loss, hypermobile tympanic membranes; ‡ malar hypoplasia, broad or flat nasal bridge, micrognathia; * scoliosis, osteoarthritis before age 40, hyper-extensibility, talipes equinovarus, pectus carinatum, pectus.