Table 1 Genetic skeletal disorder groups and abnormal neuropsychomotor development frequency.
Number/genetic skeletal disorder groupsa | n | % | ANPMD | % |
|---|---|---|---|---|
26. Abnormal mineralization group | 67 | 24.6 | 6 | 9.0 |
29. Disorganized development of skeletal components group | 44 | 16.2 | 2 | 4.5 |
25. Osteogenesis imperfecta and decreased bone density group | 38 | 14.0 | 5 | 13.2 |
13. Spondylo-epi-(meta)-physeal dysplasias | 23 | 8.5 | – | – |
10. Multiple epiphyseal dysplasia and pseudoachondroplasia group | 19 | 6.9 | 1 | 5.3 |
1. FGFR3 chondrodysplasias group | 20 | 7.4 | 3 | 15.0 |
11. Metaphyseal dysplasias | 11 | 4.0 | 1 | 9.1 |
12. Spondylometaphyseal dysplasias | 11 | 4.0 | – | – |
27. Lysosomal storage diseases with skeletal involvement (dysostosis multiplex) | 9 | 3.3 | 6 | 66.7 |
5. Perlecan group | 5 | 1.8 | 1 | 20.0 |
23. Osteopetrosis and related disorders | 5 | 1.8 | – | – |
15. Acromelic dysplasias | 4 | 1.5 | – | – |
4. Sulfation disorder group | 3 | 1.1 | – | – |
32. Cleidocranial dysplasia and related disorders | 3 | 1.1 | – | – |
8. TRPV4 group | 2 | 0.7 | 1 | 50.0 |
9. Ciliopathies with major skeletal involvement | 1 | 0.4 | 1 | 100.0 |
24. Other sclerosing bone disorders | 1 | 0.4 | 1 | 100.0 |
2. Type 2 collagen group and 3. Type 11 collagen group | 1 | 0.4 | 1 | 100.0 |
16. Acromesomelic dysplasias | 1 | 0.4 | – | – |
17. Mesomelic and rhizo-mesomelic dysplasias | 1 | 0.4 | – | – |
28. Osteolysis group | 1 | 0.4 | – | – |
37. Brachydactylies (without extraskeletal manifestations) | 1 | 0.4 | 1 | 100.0 |
42. Defects in joint formation and synostosis | 1 | 0.4 | – | – |
