A possible cranio-oro-facial phenotype in Cockayne syndrome.

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.

[The psychological impact of orthognathic surgery].

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.