RIEGER SYNDROME : A CASE REPORT

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Journal of the Korean Academy of Pediatric Dentistry 2003;30(4):667-672.
Published online November 30, 2003.

RIEGER SYNDROME : A CASE REPORT

증례 보고 : Rieger syndrome

이홍모, 김정욱, 장기택, 이상훈, 한세현, 김종철

서울대학교 치과대학 소아치과학 교실

Correspondence: ,

Abstract

Rieger syndrome is a rare, autosomal dominant genetic disorder characterized by malformation of the anterior chamber of the eye(goniodysgenesis) coincident with hypodontia. It may also be accompanied by a spectrum of dental, craniofacial and somatic anomalies. Mutations in paired-like homeodomain transcription factor2(PITX2) are associated with the syndrome, and its frequency in the general population has been estimated to be 1 : 200,000. In the present case, the patient, 4 year 7 month-old female, had posterior embryotoxon and polycoria. The maxilla was retrusive in cephalometric radiography. She had congenital missing on #52, #62 and some tooth germs of permanent tooth were not detected in panoramic radiography. The purpose of this paper is to report the dental and craniofacial findings and review the pertinent literature through this case.

Key Words: Rieger syndrome, Hypodontia, Polycoria, Posterior embryotoxon, Maxillary hypoplasia