Table 1.
Comparison of Clinical Features in Patients with Linkeropathies
| Feature | XYLT1 (n=9)<br1>Bui et al. [2014], Schreml et al. [2014] | B4GALT7 (n=26)<br1>Kresse et al. [1987], Faiyaz-Ul-Haque [2004], Guo et al. [2013], Cartault et al. [2015] | B3GALT6 (n=16)<br1>Malfait et al. [2013], Nakajima et al. [2013] | B3GAT3 (n=6)<br1>Baasanjav et al. [2011], von Oettingen et al. [2014] | Our patient |
|---|---|---|---|---|---|
| Skeletal Abnormalities | |||||
| Short stature | 9/9 (range: −5.5 to −9 SD) | 23/23 (range: −3.5 to −8.8 SD) | 13/15 (range: −1.6 to −10.7 SD) | 6/6 (<3rd %; −3.43 SD) | Yes (−2.13 SD at 9 months) |
| Joint laxity | 6/6 | 11/24 | 10/13 | 6/6 | No |
| Joint dislocations | 6/8 | 23/23 | 8/12 | 6/6 | No |
| Advanced bone age/carpal ossification | 5/5 | 12/16 | 5/10 | 0/1 | Unknown |
| Decreased bone density | NR | 2/3 | 2/2 | Yes but not specified | Yes |
| Multiple fractures | NR | 0/2 | 3/4 | NR | Yes |
| Joint contractures | NR | NR | 5/14 | 5/5 | Yes |
| Pectus abnormality | 3/3 | 7/22 | 4/4 | 1/1 | No |
| Kyphosis and/or scoliosis | NR | 6/22 | 14/14 | 0/1 | No |
| Radioulnar synostosis | 0/2 | 13/24 | NR | 0/1 | Yes |
| Restricted elbow movement | NR | 4/4 | 9/11 | 1/1 | Yes |
| Broad tips of fingers and/or toesa | 2/2 | 4/24 | 11/15 | 6/6 | Yes |
| Long fingers and/or toes | NR | 4/4 | NR | NR | Yes |
| Iliac abnormalitiesb | 1/1 | NR | 14/14 | 1/1 | Yes |
| Monkey wrench or Swedish key appearance of femora | 6/6* | 9/19 | NR | NR | No |
| Metaphyseal abnormalitiesc | NR | 3/3 | 12/13 | 1/1 | Yes |
| Foot abnormalitiesd | 4/4 | 3/3 | 8/16 | 6/6 | Yes |
| Sandal gap between toes | 1/1* | 1/1* | 1/1* | 1/1 | Yes |
| Craniofacial Features | |||||
| Prominent forehead | NR | 26/26 | 9/10 | 6/6 | Yes |
| Prominent/proptotic eyes | 2/2 | 24/24 | 8/11 | 6/6 | Yes |
| Blue sclerae | 3/3 | NR | 4/4 | NR | Yes |
| Hypertelorism | NR | 22/22 | NR | NR | No |
| Downslanting palpebral fissures | NR | 1/1 | 2/2 | 3/5 | No |
| Glaucoma/increased intraocular pressure | 0/2 | 5/21 | 1/1 | NR | Yes |
| Depressed nasal bridge | 1/1 | NR | 1/1 | 5/6 | Yes |
| Microstomia | NR | 25/25 | NR | 4/6 | Yes |
| Short and/or webbed neck | 1/1 | NR | NR | 6/6 | Yes |
| Dermatologic Abnormalities | |||||
| Hyperextensible skin | NR | 24/25 | 8/13 | 0/1 | No |
| Atrophic scars | NR | 2/2 | 2/2 | 0/1 | Not currently |
| Other findings | |||||
| Developmental delay, learning difficulties, or cognitive deficits | 8/9 | 16/26 | 6/6 | 1/6 | Yes |
| Hypotonia | 3/3 | 4/4 | 9/16 | 0/1 | Yes |
| Cardiovascular abnormalities | 0/2 | 0/1 | 0/2 | 6/6 | Yes |
“NR” indicates feature was not reported and *indicates feature was identified from picture.
a
Includes bifid thumbs, prominent digital pads.
b
Comprises of short ilia, flattened iliac wings or hypoplastic iliac bodies
c
Includes widening, flaring or other unspecified abnormalities
d
Includes clubfeet, broad feet, pes planus, talipes equinovarus, metatarsus varus