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Table 1 Genotype and oro-dental features encountered in our cohort of 17 CS patients

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

              
  1. The patient identification such as CS3LE and genotype was previously described in [25].
  2. pd: primary dentition ; PD: permanent dentition; screw d : screw driver ; dmft/DMFT : Decayed Missing and Filled Teeth for primary dentition (dmft) and permanent dentition (DMFT) teeth ; Perio: periodontium; The level of oral hygiene was correlated to the abundance of dental plaque and related to the brushing habits (from assisted AB to absent NB); Dental treatment was either: the child’s first visit to the dentist First, regular visit to the dentist VI, dental treatment in the chair under local anesthesia LA, dental procedures under conscious (inhalation) MEOPA/nitrous oxide sedation (CSE), dental treatment under general anesthesia GA, previous orthodontic assessment or treatment Ortho ass or ttt; FD: functional defects, MB: mixed breathing (mouth and nose), D: deglutition or swallowing defect, R: reflux, Para: parafunctions, brux: bruxism ; Ø none ; + present.