Kelly J R, Barr E S
Oral Surg Oral Med Oral Pathol. 1975 Aug;40(2):205-18. doi: 10.1016/0030-4220(75)90153-x.
The elfin facies syndrome is characterized by idiopathic infantile hypercalcemia; mental retardation; cardiovascular anomalies, usually supravalvular aortic stenosis and peripheral pulmonary artery stenosis; a peculiar elfin facies and oral anomalies, primarily enamel hypoplasia and oligodontia. The dental features found in the three cases reported include enamel hypoplasia, severe dental decay, oligodontia, pulp stones, microdontia, and abnormally small roots. Some consistent cephalometric abnormalities were thought to contribute to the unusual facial appearance of these patients.
小精灵面容综合征的特征为特发性婴儿高钙血症;智力发育迟缓;心血管异常,通常为主动脉瓣上狭窄和外周肺动脉狭窄;独特的小精灵面容和口腔异常,主要为牙釉质发育不全和少牙症。所报道的3例病例中发现的牙齿特征包括牙釉质发育不全、严重龋齿、少牙症、髓石、小牙畸形和牙根异常短小。一些一致的头影测量异常被认为导致了这些患者不同寻常的面部外观。