Table 1.
age, sex | onset of symptoms | clinical | family affected | legs | patella | heart | PA | aorta | eyes | other tissues | ultrasound | |
1 | 1 y, M | 6 mos | four | sire | 4 mod | ND | cor + | ND | + | both+ | nuchal+ | 2/2 front SLs |
2 | 1 y, F | 6 mos | four | sire | 4 mild | ND | cor + | ND | + | - | nuchal, lung + | 2/2 front SLs |
3 | 18 mo M | 6 mos | four | parents | 4 mild | ND | ND | ND | ND | ND | nuchal+ | ND |
4 | 18 mo M | 6 mos | four | parents | 4 mod | ND | ND | ND | ND | ND | nuchal+ | ND |
5 | 1.5 y, M | at 1 y | four | dam | 4 mild | + | - | + | - | both+ | lung + | 4 SLs |
6 | 2 y, F | birth | four | sire | 4 mod | ND | ND | ND | + | ND | ND | ¾ SLs |
7 | 3 y, F | 6 mos | rear | parents | 4 mild | + | cor + | ND | + | both + | nuchal, lung + | 4 SLs |
8 | 3 y, M | 1 year | front legs | no | 4 severe | ND | cor + | ND | + | ND | nuchal+ | ND |
9 | 7 y, F | years | four | dam | 4 severe | ND | valve+ | + | + | ND | lung + | 2/4 SLs |
10 | 8 y, M | years | four | sire, foals | 1 SL exam, mod* | ND | ND | ND | ND | L eye + | nuchal+ | 4 SLs |
11 | 9 y, F | at 9 y | rear | dam | 4 severe | ND | valve+ | + | + | ND | lung + | 4 SLs |
12 | 9 y, M | at 6 y | four | no | 4 mild | + | cor + | + | + | both+ | - | 4 SLs |
13 | 9 y, M | years | fallen crest, legs | dam | 4 mild | ND | cor + | ND | - | both + | nuchal, lung + | ND |
14 | 11 y, F | years | four | no | 1 SL exam, mild* | ND | ND | ND | ND | R eye + | nuchal+ | 2/2 hind SLs |
15 | 15 y, F | years | four | no | 4 mod | ND | ND | ND | + | ND | ND | 4 SLs |
16 | 15 y, F | years | front | foal | 4 mod | + | cor + | PA+ | + | both + | nuchal+ | ND |
17 | 15 y, F | years | four | sire, son | 4 mod | ND | cor + | ND | + | both + | nuchal, shoulder+ | ND |
18 | 18 y, F | years | four | no | 1 leg exam, severe* | ND | ND | ND | ND | ND | ND | 4 SLs |
19 | 18 y, F | years | rear legs | foals | 4 mild | ND | ND | ND | - | R eye + | nuchal, lung + | 4 SLs |
20 | 21 y, M | late onset | four | no | 4 mod | + | cor + | - | - | R eye + | - | 4 SLs |
21 | 21 y, M | years | legs | no | 4 severe | ND | cor + | ND | + | R eye + | lung + | 4 SLs |
22 | unknown | unknown | unknown | no | 4 mild | ND | - | ND | - | ND | - | ND |
Age: age at necropsy; ND: not done; legs: SDFT, DDFT and SL; cor: coronary artery; PA: pulmonary artery; nuchal: nuchal ligament
Mild, mod (moderate), severe: describes the average severity of pathology in examined leg tendons and ligaments; +: accumulation of proteoglycans in other tissues; -: no proteoglycan accumulation
*only limited tissue was available for examination