The elfin facies syndrome.
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.
D000848:Anodontia / Q000209:etiology; D001024:Aortic Valve Stenosis / Q000150:complications*; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D003744:Dental Enamel Hypoplasia / Q000209:etiology; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D006934:Hypercalcemia / Q000150:complications*; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008310:Malocclusion / Q000209:etiology; D013577:Syndrome; D014071:Tooth Abnormalities / Q000209:etiology*