Craniometaphyseal dysplasia. Report of a case.
Craniometaphyseal dysplasia, often referred to as Pyle's disease, is a hereditary disease involving the expansion of the metaphyses of the long bones, giving the appearance of an Erlenmeyer flask. There is diffuse hyperostosis of the entire cranial vault, along with absence or decreased development of the paranasal sinuses. In the case presented here the mouth demonstrated an abnormality wide maxilla with a slight palatal vault. Genetically, this appeared to be a dmoninant form of dysplasia.
D001848:Bone Diseases, Developmental / Q000235:genetics; D002648:Child; D003817:Dentition; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008310:Malocclusion / Q000209:etiology*; D008437:Maxilla / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities*