Table 1.
Clinical and demographic features of the patients with pycnodysostosis summarized according to mutations
| Pt ID | City of Origin | Centers | Age (F/M) | Open Ant. Fontanel | Acroosteolysis | Fractures (n)- age (yr)* | Height SDS |
|---|---|---|---|---|---|---|---|
| M1I-(3G- > A)- Exon 2 | |||||||
| 1-I |
Ordu |
Istanbul |
2.7 (F) |
Yes |
Yes |
Cranium (1)-2.3 |
-3.01 |
| 1-II |
|
6.5 (F) |
No |
Yes |
Femur (2)-5.4 |
-2.36 |
|
| L7P- (20 T - > C)-Exon2 | |||||||
| 2 |
Ankara |
Ankara |
32 (M) |
No |
Yes |
Femur (2), tibia (1) |
-4.3 |
| 3 |
Ankara |
Ankara |
10 (M) |
Yes |
Yes |
Tibia (1) |
-3.9 |
| 4 |
Çorum |
Istanbul |
11 (F) |
No |
Yes |
Tibia (1)-9.7 |
-4.8 |
| 5 |
Samsun |
Ankara |
19 (M) |
Yes |
Yes |
Tarsal (1)-14 |
-3.8 |
| D80Y-(238G- > T)-Exon 3 | |||||||
| 6 |
Kastamonu |
Istanbul |
10.5 (F) |
No |
Yes |
Yes**-10.5 |
-2.31 |
| D169N-(505G- > A)-Exon 5 | |||||||
| 7 |
Erzincan |
Erzurum |
5 (M) |
Yes |
Yes |
No |
-2.2 |
| I249T-(746 T- > C)-Exon 6 | |||||||
| 8 |
Sivas |
Istanbul |
6 (F) |
No |
No |
No |
-2.6 |
| 9 |
Yozgat |
Ankara |
12 (M) |
Yes |
Yes |
Tibia (3), clavicle (1), scapula (1)-6 |
-3.6 |
| R312X-(934C- > T)- Exon 8 | |||||||
| 10 |
Yozgat |
Ankara |
14 (M) |
Yes |
Yes |
No |
-4.4 |
| 11 |
Corum |
Ankara |
8 (F) |
Yes |
Yes |
No |
-5.2 |
| 12 |
Erzincan |
İstanbul |
9.8 (M) |
No |
Yes |
Tibia (3)-5 |
-2.12 |
| N296fX54 (IVS7-14-15insAlu: HSU18392)-Intron 7 | |||||||
| 13-II.1 |
Mardin |
Istanbul |
6.5 (F) |
Yes |
Yes |
No |
-4.64 |
| 13-II.3 |
|
|
1 (F) |
Yes |
No |
No |
-1.77 |
| 14 | Batman | Ankara | 16 m (F) | Yes | Yes | No | -2.0 |
*The age given for fractures is the age the first fracture occurred in the patient. **Cervical vertebrate during operation for Arnold Chiari malformation.