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.
D000848:Anodontia / Q000150:complications* / Q000235:genetics; D000867:Anterior Chamber / Q000002:abnormalities*; D002508:Cephalometry; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D008297:Male; D008310:Malocclusion / Q000150:complications; D010375:Pedigree; D013577:Syndrome; D014472:Umbilicus / Q000002:abnormalities*