Table 1.
Review of the literature of SLC10A7 patients and clinical comparison with Desbuquois syndrome.
| Clinical features | Reported patients (Dubail et al., 2018) | Reported patients (Ashikov et al., 2018) | Our patient | Desbuquois syndrome |
|---|---|---|---|---|
| Intra-uterine growth retardation | 6/6 | + | + | |
| Postnatal growth retardation | 6/6 | 5/5 | + (−3SD) | + (−4SD to −10SD) |
| Micrognathia | 6/6 | 2/5 | + | + |
| Congenital multiple dislocations | 6/6 | – | − | + |
| Amelogenesis imperfecta | 6/6 | 5/5 | + | − |
| Advanced carpal ossification | 6/6 | + | + | |
| Scoliosis | 6/6 | 5/5 | + | + |
| Blue sclerae | + | + | ||
| Prominent eyes | + | + | + | |
| Flat face | + | + | ||
| Short neck | + | + | + | |
| Presence of hand anomalies, namely, accessory ossification center distal to the second metacarpal, bifid distal phalanx, or delta phalanx of the thumb | − | – | + (type 1) | |
| Brachydactyly | + | + | + | |
| Short long bones with “Swedish key” appearance of the proximal femur | 4/6 | + | ||
| Organ malformations | – | +/− | ||
| Mental retardation | 4/5 | – | +/− |
The patients from Dubail et al. (2018) presented with a phenotype close to the Desbuquois syndrome phenotype. Patient from (Ashikov et al., 2018) and our proband did not present joint dislocation. All the patients were affected by a skeletal dysplasia associated with AI.