Table 3.
Typical clinical features of pycnodysostosis*
| Typical features | Positive | Negative | Not mentioned |
|---|---|---|---|
| Short stature (<150 cm) | 93(95.9%) | 0 | 4(4.1%) |
| Increase of bone density | 86(88.7%) | 0 | 11(11.3%) |
| Open fontanels and sutures | 68-73(70.1%-75.3%) | 0 | 24-29(24.7%-29.9%) |
| Frontal and parietal bossing | 67-72(69.1%-74.2%) | 0 | 25-30(25.8%-30.9%) |
| Fractures | 65(67.0%) | 3(3.1%) | 29(29.9%) |
| Obtuse mandibular angle | 63(64.9%) | 0 | 34(35.1%) |
| Hypoplasia of the jaws | 53-61(54.6%-62.9%) | 0 | 36-44(37.1%-45.4%) |
| Stubby hands and feet with osteolysis of the distal phalanges | 43-50(44.3%-51.5%) | 0 | 47-54(48.5%-55.7%) |
| Prominent eyes with bluish sclerae | 34(35.1%) | 0 | 63(64.9%) |
| Grooved palate | 20-28(20.6%-28.9%) | 0 | 69-77(71.1%-79.4%) |
| Dysplastic nails | 26(26.8%) | 0 | 71(73.2%) |
| Clavicular dysplasia | 24(24.7%) | 0 | 73(75.3%) |
| Nonpneumatised paranasal sinuses | 17(17.5%) | 0 | 80(82.5%) |
| Beaked nose | 16(16.5%) | 0 | 81(83.5%) |
*n = 97 (44 females, 42 males, and 11 unknown)