Table 1. Phenotypes of the CCD patients with different RUNX2 variants.
| Characteristics | 1-I:2 | 2-II:1 | 3-II:1 | 4-II:2 | 5-II:1 |
|---|---|---|---|---|---|
| Genetic variants | c.739delA (p.(Ser247Valfs*3)) | c.901C>T (p.(Gln301*)) | c.1081C>T (p.(Gln361*)) | c.673C>T (p.(Arg225Trp)) | c.674G>A (p.(Arg225Gln)) |
| Age (years) | 28 | 21 | 6 | 20 | 3 |
| Gender | Female | Male | Female | Female | Male |
| Clavicles | Hypoplasia | Normal | Aplasia | Aplasia | Hypoplasia |
| Abnormal facility in opposing the shoulders | Y | N | Y | Y | Y |
| Dental features | |||||
| Dentition | Permanent | Permanent | Deciduous | Permanent | Deciduous |
| Unerupted permanent teeth | 30 teeth | 19 teeth | NA | 20 teeth | NA |
| Unerupted supernumerary teeth | 5 teeth | 7 teeth | 2 teeth (deciduous upper incisors) | 8 teeth | N |
| Malocclusion | Y | Y | Y | Y | Y |
| Crossbite | Y | Y | Y | Y | Y |
| Retention of deciduous teeth | Y | Y | N | Y | N |
| Delayed eruption of deciduous teeth | NA | NA | NA | NA | Y |
| Craniofacial features | |||||
| Open/delayed closure of fontanelle | Y | Y (minimal) | Y | Y | Y |
| Wormian bones | Y | Y | Y | Y | Y |
| Frontal bossing | Y | Y | Y | Y | Y |
| Parietal bossing | N | Y | Y | N | Y |
| Metopic depression | Y | Y | Y | Y | Y |
| Maxillary hypoplasia | Y | Y | N | Y | Y |
| Other features | |||||
| Hands | Brachydactyly | N | Partial pseudoepiphysis of 2 nd and 5 th proximal metacarpal bone, shortening of 2 nd and 5 th middle phalanges, fusion of 1 st distal phalanx | N | N |
| Feet | Fourth-ray brachymetatarsia of the left foot | N | N | N | N |
Y, present; N, not present; NA, not available