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Table 3 Typical clinical features of pycnodysostosis*

From: Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

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%)

  1. *n = 97 (44 females, 42 males, and 11 unknown)