Dental and craniofacial anomalies of Axenfeld-Rieger syndrome

Apart from the three distinguishing findings for the diagnosis of Axenfeld-Rieger syndrome (oligodontia, failure of periumbilical skin to involute, and ocular anterior chamber defects), a common feature is midface hypoplasia. Two theories have been proposed to explain the midface hypoplasia. One theory suggests a pleiotropic gene effect of defective neural crest cells, while the other theory proposes that midface hypoplasia is a local effect due to the absence of teeth. This study presents an evaluation of the craniofacial defects in a family affected with Axenfeld-Rieger syndrome. The maxillary deficiency in three affected patients was not limited to the alveolar regions. We conclude that a combination of skeletal and dentoalveolar factors contributes to the midface hypoplasia associated with Axenfeld-Rieger syndrome.