Axenfeld-Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report

Head Face Med. 2022 Jul 8;18(1):25. doi: 10.1186/s13005-022-00329-y.

Abstract

Axenfeld-Rieger Syndrome (ARS) is a rare autosomal dominant genetic disease with considerable expressive variability, characterized by ocular and non-ocular manifestations, cardiovascular, mild craniofacial abnormalities and dental malformations. Current data report an incidence of Xenfeld-Rieger syndrome in the population of 1: 200,000.The case described is that of a 14-year-old female patient whose ARS is suspected and investigated following a dental specialist visit for orthodontic reasons, acquired the patient's family and clinical data following a medical approach multidisciplinary, we proceed to the orthodontic involved the use of the Rapid Palatal Expander (RPE) and a fixed orthodontic treatment.The aim of this study is to report the case of the orthopaedic and orthodontic treatment in a patient affected by ARS and with facial dysmorphism and teeth anomalies associated to ocular anomalies.

Keywords: Axenfeld–Rieger syndrome; Case report; Orthodontic treatment; Rieger anomaly.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anterior Eye Segment / abnormalities
  • Child
  • Eye Abnormalities* / genetics
  • Eye Diseases, Hereditary* / genetics
  • Eye Diseases, Hereditary* / therapy
  • Female
  • Humans
  • Orthopedics*

Supplementary concepts

  • Axenfeld-Rieger syndrome