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A possible cranio-oro-facial phenotype in Cockayne syndrome.
Orphanet J Rare Dis. 2013 Jan 14; 8:9.OJ

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.

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.

Authors+Show Affiliations

Faculté de Chirurgie Dentaire de Strasbourg, Université de Strasbourg, 1 place de l'Hôpital, Strasbourg 67000, France. agnes.bloch-zupan@unistra.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23311583

Citation

Bloch-Zupan, Agnès, et al. "A Possible Cranio-oro-facial Phenotype in Cockayne Syndrome." Orphanet Journal of Rare Diseases, vol. 8, 2013, p. 9.
Bloch-Zupan A, Rousseaux M, Laugel V, et al. A possible cranio-oro-facial phenotype in Cockayne syndrome. Orphanet J Rare Dis. 2013;8:9.
Bloch-Zupan, A., Rousseaux, M., Laugel, V., Schmittbuhl, M., Mathis, R., Desforges, E., Koob, M., Zaloszyc, A., Dollfus, H., & Laugel, V. (2013). A possible cranio-oro-facial phenotype in Cockayne syndrome. Orphanet Journal of Rare Diseases, 8, 9. https://doi.org/10.1186/1750-1172-8-9
Bloch-Zupan A, et al. A Possible Cranio-oro-facial Phenotype in Cockayne Syndrome. Orphanet J Rare Dis. 2013 Jan 14;8:9. PubMed PMID: 23311583.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A possible cranio-oro-facial phenotype in Cockayne syndrome. AU - Bloch-Zupan,Agnès, AU - Rousseaux,Morgan, AU - Laugel,Virginie, AU - Schmittbuhl,Matthieu, AU - Mathis,Rémy, AU - Desforges,Emmanuelle, AU - Koob,Mériam, AU - Zaloszyc,Ariane, AU - Dollfus,Hélène, AU - Laugel,Vincent, Y1 - 2013/01/14/ PY - 2012/10/02/received PY - 2013/01/01/accepted PY - 2013/1/15/entrez PY - 2013/1/15/pubmed PY - 2013/9/17/medline SP - 9 EP - 9 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 8 N2 - 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. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/23311583/A_possible_cranio_oro_facial_phenotype_in_Cockayne_syndrome_ L2 - https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-9 DB - PRIME DP - Unbound Medicine ER -