A possible cranio-oro-facial phenotype in Cockayne syndrome

Orphanet Journal of Rare Diseases

Vincent Laugel⁷  Hélène Dollfus⁷  Ariane Zaloszyc⁷  Mériam Koob⁶  Emmanuelle Desforges³  Rémy Mathis²  Matthieu Schmittbuhl¹  Virginie Laugel⁵  Morgan Rousseaux³  Agnès Bloch-Zupan⁴ 

[1] INSERM UMR 977 "Biomaterials and Tissue Engineering", Faculty of Dentistry, University of Strasbourg, Strasbourg, France;Reference Centre for Oro-dental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-Dentaires, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, 67000, France;Faculté de Chirurgie Dentaire de Strasbourg, Université de Strasbourg, 1 place de l’Hôpital, Strasbourg, 67000, France;Eastman Dental Institute, University College London, London, UK;IGBMC (Institute of Genetics and Molecular and Cellular Biology), INSERM, U964; CNRS, UMR7104, Illkirch, 67400, France;Department of Radiology, HUS, Strasbourg, France;Laboratoire Physiopathologie des syndromes rares héréditaires, Equipe EA 3949 INSERM-AVENIR, Université de Strasbourg, Faculté de Médecine, 11 rue Humann, Strasbourg, 67000, France

关键词: ERCC8;    ERCC6;    Cephalometry;    Tooth abnormalities;    Tooth development;    Phenotype;    Cockayne Syndrome;   

Others  :  864144
DOI  :  10.1186/1750-1172-8-9

 received in 2012-10-02, accepted in 2013-01-01,  发布年份 2013

【 摘 要 】

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.

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.

【 授权许可】

   
2013 Bloch-Zupan et al.; licensee BioMed Central Ltd.

【 图 表 】

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