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 midfacc hypoplasia. Two theories have been proposed to explain the midfacc 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.