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 ¼. 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. CONCLUSION: 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.
Subject(s)
Cockayne Syndrome/pathology , Craniofacial Abnormalities/pathology , Tooth Abnormalities/pathology , Adolescent , Adult , Cephalometry , Child , Child, Preschool , Cockayne Syndrome/diagnosis , Cockayne Syndrome/genetics , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/genetics , DNA Helicases/genetics , DNA Repair Enzymes/genetics , Face/abnormalities , Face/pathology , Female , Humans , Infant , Male , Phenotype , Poly-ADP-Ribose Binding Proteins , Tooth Abnormalities/diagnosis , Tooth Abnormalities/genetics , Transcription Factors/genetics , Young AdultABSTRACT
We carried out an investigation on 92 patients having benefited from an orthognathic surgery, in order to demonstrate the effects of the dento-facial deformations on the patients' everyday life and the psychological impact of the multidisciplinary treatment. Questionnaires were drawn up and sent to the residence of the patients: one preoperative, transmitted 15 days before the intervention and one postoperative, addressed 6 months afterwards. Our results revealed that all the patients of our study were satisfied and that this treatment eliminated the complex of 90% of the patients. We could highlight that the more surprising part of the treatment for the patients is the postoperative facial deformation generated by the important postoperative oedema. We concluded that the information of the patient and the communication patient-expert have a preponderant role in the therapeutic caring. .