Literature DB >> 1058438

Craniometaphyseal dysplasia. Report of a case.

D H Lipschultz, M M Album, S E Stool, H J Kaufman.   

Abstract

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.

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Year:  1975        PMID: 1058438     DOI: 10.1016/0030-4220(75)90243-1

Source DB:  PubMed          Journal:  Oral Surg Oral Med Oral Pathol        ISSN: 0030-4220


  2 in total

1.  Craniometaphyseal Dysplasia: A review and novel oral manifestation.

Authors:  K Martin; S Nathwani; R Bunyan
Journal:  J Oral Biol Craniofac Res       Date:  2017-05-06

Review 2.  Gaucher Disease in Bone: From Pathophysiology to Practice.

Authors:  Derralynn Hughes; Peter Mikosch; Nadia Belmatoug; Francesca Carubbi; TimothyM Cox; Ozlem Goker-Alpan; Andreas Kindmark; PramodK Mistry; Ludger Poll; Neal Weinreb; Patrick Deegan
Journal:  J Bone Miner Res       Date:  2019-06-24       Impact factor: 6.741

  2 in total

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