title: A possible cranio-oro-facial phenotype in Cockayne syndrome.
abstract: BACKGROUND
  Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies.
  
  
  METHODS
  We studied the cranio-oro-facial status of a group of 17 CS patients from 15 families participating in the National Hospital Program for Clinical Research (PHRC) 2005 « Clinical and molecular study of Cockayne syndrome ». All patients were examined by two investigators using the Diagnosing Dental Defects Database (D[4]/phenodent) record form.
  
  
  RESULTS
  Various oro-facial and dental anomalies were found: retrognathia; micrognathia; high- arched narrow palate; tooth crowding; hypodontia (missing permanent lateral incisor, second premolars or molars), screwdriver shaped incisors, microdontia, radiculomegaly, and enamel hypoplasia. Eruption was usually normal. Dental caries was associated with enamel defects, a high sugar/carbohydrate soft food diet, poor oral hygiene and dry mouth. Cephalometric analysis revealed mid-face hypoplasia, a small retroposed mandible and hypo-development of the skull.
  
  
  CONCLUSIONS
  CS patients may have associated oro-dental features, some of which may be more frequent in CS children - some of them being described for the first time in this paper (agenesis of second permanent molars and radiculomegaly). The high susceptibility to rampant caries is related to a combination of factors as well as enamel developmental defects. Specific attention to these anomalies may contribute to diagnosis and help plan management.
authors: Faculté de Chirurgie Dentaire de Strasbourg, Université de Strasbourg, 1 place de l'Hôpital, Strasbourg 67000, France. agnes.bloch-zupan@unistra.fr
authors: Agnès
authors: A
authors: Bloch-Zupan
authors: Morgan
authors: M
authors: Rousseaux
authors: Virginie
authors: V
authors: Laugel
authors: Matthieu
authors: M
authors: Schmittbuhl
authors: Rémy
authors: R
authors: Mathis
authors: Emmanuelle
authors: E
authors: Desforges
authors: Mériam
authors: M
authors: Koob
authors: Ariane
authors: A
authors: Zaloszyc
authors: Hélène
authors: H
authors: Dollfus
authors: Vincent
authors: V
authors: Laugel
mesh_terms: D000293:Adolescent; D000328:Adult; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D004265:DNA Helicases / Q000235:genetics; D045643:DNA Repair Enzymes / Q000235:genetics; D005145:Face / Q000002:abnormalities / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D000075223:Poly-ADP-Ribose Binding Proteins; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics; D055815:Young Adult
chemical_list: C095472:ERCC8 protein, human; D000075223:Poly-ADP-Ribose Binding Proteins; D014157:Transcription Factors; D004265:DNA Helicases; C078673:ERCC6 protein, human; D045643:DNA Repair Enzymes