Literature DB >> 16302606

Axenfeld-Rieger syndrome: report on dental and craniofacial findings.

Ashok Kumar Jena1, Om P Kharbanda.   

Abstract

Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. Dental abnormalities are considered as definitive features for the diagnosis and differentiation of Rieger syndrome from other anterior chamber of the eye malformations. A case of Rieger syndrome with distinct dental and craniofacial anomalies is described. Significant cranio-dento-facial findings that have been observed are, teeth with short and dilacerated roots, hyperplastic frenums and underdeveloped maxilla. There was an anterior crossbite, bilateral posterior open-bite and moderate to severe anterior crowding.

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Year:  2005        PMID: 16302606     DOI: 10.17796/jcpd.30.1.v1732398454r0244

Source DB:  PubMed          Journal:  J Clin Pediatr Dent        ISSN: 1053-4628            Impact factor:   1.065


  8 in total

1.  Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.

Authors:  Mukesh Tanwar; Tanuj Dada; Rima Dada
Journal:  Case Rep Med       Date:  2010-08-09

2.  Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs.

Authors:  Yongchang Ji; Sharleen M Buel; Jeffrey D Amack
Journal:  Dev Biol       Date:  2016-06-11       Impact factor: 3.582

3.  Review of Dilaceration of Maxillary Central Incisor: A Mutidisciplinary Challenge.

Authors:  Pawanjit Singh Walia; Ajit Kumar Rohilla; Shweta Choudhary; Ravneet Kaur
Journal:  Int J Clin Pediatr Dent       Date:  2016-04-22

4.  A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing.

Authors:  Lusi Zhang; Yingqian Peng; Pingbo Ouyang; Youling Liang; Huilan Zeng; Nuo Wang; Xuanchu Duan; Jingming Shi
Journal:  BMC Med Genet       Date:  2019-06-11       Impact factor: 2.103

Review 5.  The Skull's Girder: A Brief Review of the Cranial Base.

Authors:  Shankar Rengasamy Venugopalan; Eric Van Otterloo
Journal:  J Dev Biol       Date:  2021-01-23

6.  A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.

Authors:  Rui Wang; Wei-Qian Wang; Xiao-Qin Li; Juan Zhao; Kun Yang; Yong Feng; Meng-Meng Guo; Min Liu; Xing Liu; Xi Wang; Yong-Yi Yuan; Xue Gao; Jin-Cao Xu
Journal:  BMC Med Genomics       Date:  2021-11-22       Impact factor: 3.063

7.  Dental and Craniofacial Manifestation of Axenfeld-Rieger Syndrome: A Case Report.

Authors:  Sheetal Badnaware; Vinay Kumar Srivastava; Meenakshi Chandel; Pooja Gupta; Punit Fulzele
Journal:  Cureus       Date:  2022-06-29

8.  Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.

Authors:  Mallika Prem Senthil; Lachlan S W Knight; Deepa Taranath; David A Mackey; Jonathan B Ruddle; Mark Y Chiang; Owen M Siggs; Emmanuelle Souzeau; Jamie E Craig
Journal:  Cornea       Date:  2022-03-30       Impact factor: 3.152

  8 in total

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