Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation
Joint Authors
Gramer, Eugen
Jablonski-Momeni, Anahita
Meyer-Marcotty, Philipp
Weisschuh, Nicole
Pieper, Klaus
Dressler, Simone
Gramer, Gwendolyn
Source
Issue
Vol. 2010, Issue 2010 (31 Dec. 2010), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-03-21
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Axenfeld-Rieger syndrome (ARS) (OMIM Nr.: 180500) is a rare autosomal dominant disorder (1 : 200000) with genetic and morphologic variability.
Glaucoma is associated in 50% of the patients.
Craniofacial and dental anomalies are frequently reported with ARS.
The present study was designed as a multidisciplinary analysis of orthodontic, ophthalmologic, and genotypical features.
A three-generation pedigree was ascertained through a family with ARS.
Clinically, radiographic and genetic analyses were performed.
Despite an identical genotype in all patients, the phenotype varies in expressivity of craniofacial and dental morphology.
Screening for PITX2 and FOXC1 mutations by direct DNA-sequencing revealed a P64L missense mutation in PITX2 in all family members, supporting earlier reports that PITX2 is an essential factor in morphogenesis of teeth and craniofacial skeleton.
Despite the fact that the family members had identical mutations, morphologic differences were evident.
The concomitant occurrence of rare dental and craniofacial anomalies may be early diagnostic indications of ARS.
Early detection of ARS and elevated intraocular pressure (IOP) helps to prevent visual field loss.
American Psychological Association (APA)
Dressler, Simone& Meyer-Marcotty, Philipp& Weisschuh, Nicole& Jablonski-Momeni, Anahita& Pieper, Klaus& Gramer, Gwendolyn…[et al.]. 2010. Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation. Case Reports in Medicine،Vol. 2010, no. 2010, pp.1-7.
https://search.emarefa.net/detail/BIM-485916
Modern Language Association (MLA)
Dressler, Simone…[et al.]. Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation. Case Reports in Medicine No. 2010 (2010), pp.1-7.
https://search.emarefa.net/detail/BIM-485916
American Medical Association (AMA)
Dressler, Simone& Meyer-Marcotty, Philipp& Weisschuh, Nicole& Jablonski-Momeni, Anahita& Pieper, Klaus& Gramer, Gwendolyn…[et al.]. Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation. Case Reports in Medicine. 2010. Vol. 2010, no. 2010, pp.1-7.
https://search.emarefa.net/detail/BIM-485916
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-485916