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Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation

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Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation. / Dressler, Simone; Meyer-Marcotty, Philipp; Weisschuh, Nicole; Jablonski-Momeni, Anahita; Pieper, Klaus; Gramer, Gwendolyn; Gramer, Eugen.

In: CASE REP MED, Vol. 2010, 2010, p. 621984.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Dressler, S, Meyer-Marcotty, P, Weisschuh, N, Jablonski-Momeni, A, Pieper, K, Gramer, G & Gramer, E 2010, 'Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation', CASE REP MED, vol. 2010, pp. 621984. https://doi.org/10.1155/2010/621984

APA

Dressler, S., Meyer-Marcotty, P., Weisschuh, N., Jablonski-Momeni, A., Pieper, K., Gramer, G., & Gramer, E. (2010). Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation. CASE REP MED, 2010, 621984. https://doi.org/10.1155/2010/621984

Vancouver

Dressler S, Meyer-Marcotty P, Weisschuh N, Jablonski-Momeni A, Pieper K, Gramer G et al. Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation. CASE REP MED. 2010;2010:621984. https://doi.org/10.1155/2010/621984

Bibtex

@article{3945d7e88ace463a8abb8bb090ebf31c,
title = "Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation",
abstract = "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.",
author = "Simone Dressler and Philipp Meyer-Marcotty and Nicole Weisschuh and Anahita Jablonski-Momeni and Klaus Pieper and Gwendolyn Gramer and Eugen Gramer",
year = "2010",
doi = "10.1155/2010/621984",
language = "English",
volume = "2010",
pages = "621984",
journal = "CASE REP MED",
issn = "1687-9627",
publisher = "Hindawi Limited",

}

RIS

TY - JOUR

T1 - Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation

AU - Dressler, Simone

AU - Meyer-Marcotty, Philipp

AU - Weisschuh, Nicole

AU - Jablonski-Momeni, Anahita

AU - Pieper, Klaus

AU - Gramer, Gwendolyn

AU - Gramer, Eugen

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

U2 - 10.1155/2010/621984

DO - 10.1155/2010/621984

M3 - SCORING: Journal article

C2 - 20339518

VL - 2010

SP - 621984

JO - CASE REP MED

JF - CASE REP MED

SN - 1687-9627

ER -