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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.