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Dentistry and oral medicine
Insights into Axenfeld-Rieger syndrome
  1. Karthikeya Patil,
  2. Sanjay Chikkarasinakere Jogigowda,
  3. Varusha Sharon Christopher and
  4. Eswari Solayappan
  1. Oral Medicine and Radiology, JSS Dental College and Hospital, Mysore, Karnataka, India
  1. Correspondence to Dr Sanjay Chikkarasinakere Jogigowda; drsanjaycj_dch{at}jssuni.edu.in

Abstract

Axenfeld-Rieger syndrome (ARS) is an exceptionally uncommon genetic disorder characterised by spontaneous occurrence and autosomal dominant inheritance. Its prevalence is estimated at 1:200 000 in the general population. This condition is hallmarked by aberrant anterior segment development of the eye, accompanied by a spectrum of dental, craniofacial and somatic anomalies. The heterogeneous presentation of ARS poses significant diagnostic challenges for clinicians. A comprehensive diagnostic evaluation and multidisciplinary approach are imperative for the identification of this rare syndrome. This case report delineates an instance of ARS with concomitant cerebral calcifications, diagnosed through meticulous clinical investigation in a male subject of the first decade.

  • Dentistry and oral medicine
  • Congenital disorders
  • Radiology

https://doi.org/10.1136/bcr-2024-261653

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: KP, SCJ, VSC and ES. The following authors gave final approval of the manuscript: KP; SCJ.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.