From: A possible cranio-oro-facial phenotype in Cockayne syndrome
Patient | Age (y.m) | Type | Gene | Mutation | Orodental anomalies | Crowding | Caries dmft / DMFT | Perio | Oral Hygiene | Dental treatment | FD | Para | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Number of teeth | Shape | Size | Structure | Eruption | ||||||||||||||
Enamel | Dentin | pd | PD | |||||||||||||||
1 | 1.8 | Severe (II) | CSB | c.2167C>T | Ø | Ø | microdontia | opacities | Ø | late | Ø | + | 0 / Ø | normal | good AB | First visit | MB | Ø |
CS3LE | c.2578_80delCTG | |||||||||||||||||
2 | 1.9 | Very severe COFS | CSB | c.2612T>C c.3513dupT | Ø | Ø | microdontia | opacities | Ø | Ø | Ø | Ø | 0 / Ø | normal | absent NB | VI | MB | brux |
CS881VI | ||||||||||||||||||
3 | 2.3 | Severe (II) | CSB | c.1954C>T | Ø | Ø | microdontia | hypoplasia | Ø | Ø | Ø | Ø | 0 / Ø | normal | good AB | VI | MB | brux |
08STR4 | c.1954C>T | |||||||||||||||||
4 | 2.5 | Very severe COFS | CSB | c.2960T>C | Ø | Ø | microdontia | hypoplasia | Ø | Ø | Ø | Ø | 0 / Ø | normal | absent NB | First visit | MB R | Ø |
CS797VI | c.2254A>G | |||||||||||||||||
5 | 2.9 | Severe (II) | CSB | Ø | Ø | Ø | hypoplasia | Ø | Ø | Ø | Ø | 20 / Ø | gingivitis | deficient NB | First visit | MB R | Ø | |
6 | 3.7 | Severe (II) | CSB | c.3862C>T | Ø | Ø | Ø | hypoplasia | Ø | Ø | Ø | Ø | 20 / Ø | normal | absent NB | VI No treatment | MB R | brux |
CS817VI | ||||||||||||||||||
7 | 4.11 | Moderate (I) | CSB | c.2830-2A>G | Ø | Ø | microdontia | hypoplasia | Ø | Ø | Ø | Ø | 0 / Ø | normal | good AB | VI | MB | Ø |
c.3983dupA | ||||||||||||||||||
8 | 6.7 | Moderate (I) | CSB | c.653-2A>G | agenesis 12, 15, 25,35,45 | Ø | microdont 22 | Ø | Ø | Ø | Ø | +++ | 2 / Ø | normal | good AB | VI no treatment Ortho ass | MB | Ø |
AEN74 | ||||||||||||||||||
9 | 7.11 | Moderate (I) | CSA | c.618–1G>A | Ø | Ø | Ø | hypoplasia | Ø | early | early | ++ | 5 / 0 | gingivitis | deficient AB | VI LA | MB D R | Ø |
CS794VI | ||||||||||||||||||
10 | 8.1 | Moderate (I) | CSA | c.582G>C | agenesis 35,17,37, 47 | 11, 21 shovel 12,22 atyp | taurodontism | opacities | Ø | Ø | Ø | Ø | 2 / Ø | gingivitis | deficient AB | VI | MB D | Ø |
CS655VI | c.70dupA | |||||||||||||||||
11 | 9.1 | Moderate (I) | CSA | c.797A>G | Ø | 11, 21 screw d. | Ø | opacities | Ø | early | early | Ø | 0 / 0 | gingivitis | deficient AB | VI Fissure sealants under CSE | MB D | Ø |
CS861VI | c.843+5G>C | |||||||||||||||||
12 | 9.5 | Moderate (I) | CSA | r.0 (no mRNA full length) | Ø | 12, 22 cingulum | globular 2nd premolar | opacities | Ø | Ø | Ø | +++ | 16 / 4 | gingivitis | deficient NB | 2GA | MB R | Ø |
CS466VI | ||||||||||||||||||
13 | 14.4 | Moderate (I) | CSA | c.797A>G | Ø | Ø | Ø | hypoplasia | Ø | Ø | Ø | Ø | Ø / 0 | gingivitis | deficient AB | 1GA Primary dentition | MB D | Ø |
08STR2 | ||||||||||||||||||
14 | 14.6 | Moderate (I) | CSA | r.0 (no mRNA full length) | Ø | Ø | Ø | hypoplasia | Ø | Ø | Ø | ? | Ø / 28 | gingivitis | deficient NB | 4GA | MB R | Ø |
CS466VI_2 | ||||||||||||||||||
Brother of CS466VI | ||||||||||||||||||
15 | 15.10 | Mild (III) | CSB | c.1913A>G | Ø | 11, 21 screw d. | Ø | opacities | Ø | Ø | Ø | +++ | Ø / 0 | gingivitis | deficient AB | VI, LA Ortho ass | MB | Ø |
CS543VI | c.2247delT | |||||||||||||||||
16 | 16.5 | Moderate (I) | CSA | c.797A>G | Ø | Ø | radiculo- megaly | hypoplasia | Ø | Ø | Ø | + | Ø / 2 | gingivitis | deficient AB | 1GA | MB D | Ø |
08STR2_2 | ||||||||||||||||||
Brother of 08STR2 | ||||||||||||||||||
17 | 28.5 | Mild (III) | CSB | c.3778+2T>G | Ø | 11, 21 shovel | taurodontism | pits | Pulp Calcif | Ø | Ø | +++ | Ø / 13 | gingivitis | deficient AB | 1GA Ortho ttt | MB | Ø |
CS823VI | c.2203C>T |