Table 3.
comparison between the linkeropathies
| XYLT1 [11–16] | XYLT2 [17–22] | B4GALT7a [23–28] | B3GALT6 [10, 30, 31] | B3GAT3 [32–39] | |
|---|---|---|---|---|---|
| Short stature | 100% (15/15) | 53% (9/17) | 100% (8/8) | 100% (27/27) | 83% (19/23) |
| Skeletal dysplasiab | 100% (15/15) | 94% (16/17) | 100% (8/8) | 100% (27/27) | 100% (26/26) |
| Joint hypermobility | 40% (6/15) | NR | 100% (8/8) | 88% (22/25) | 53% (10/19) |
| Bone fragility | 7% (1/15) | 94% (16/17) | 62% (5/8) | 48% (13/27) | 67% (8/12) |
| Joint contractures | NR | NR | 37% (3/8) | 59% (16/27) | 69% (11/16) |
| Facial dysmorphologyc | 100% (15/15) | 65% (11/17) | 87% (7/8) | 100% (25/25) | 100% (25/25) |
| Hyperextensible skin/ cutis laxa | NR | NR | 87% (7/8) | 68% (17/25) | 12% (reported in 3) |
| Cardiovascular involvement | 7% (1/15) | 35% (6/17) | NR | 16% (4/25) | 60% (12/20) |
| Intellectual disability | 100% (Present in all older patients) | 35% (6/17) | 75% (6/8) | 20% (5/25) | 14% (2/14) |
| Ocular involvement | NR | 88% (15/17) | 62% (5/8) | NR | 15% (reported in 4) |
| Hearing loss | 7% (1/15) | 53% (9/17) | 25% (2/8) | NR | 8% (reported in 2) |
a With exclusion of the Larsen of Reunion Island syndrome cohort from Crathault et al. [23]
b Skeletal dysplasia including shortening and deformity of long bones, (kypho)scoliosis, small thoracic cage, radioulnar synostosis, deformity of the feet
c Facial dysmorhpology including wide forehead, downslanting palpebral fissures, large eyes, blue sclerae, depressed nasal bridge and midfacial hypoplasia