Literature DB >> 269344

Radiographic observations of pyknodysostosis. Report of a case.

K Kawahara, M Nishikiori, K Imai, K Kishi, Y Fujiki.   

Abstract

A case of pyknodysostosis in a 32-year-old woman has been reported. The patient presented typical skeletal changes, separated cranial sutures, open fontanelles, partial aplasia of the terminal phalanges of the fingers and toes, and brachyphalanges. The oral findings included lesions resembling periapical cementoma, hypoplasia of the maxilla and mandible, crowding of teeth, and a median raphe.

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Year:  1977        PMID: 269344     DOI: 10.1016/0030-4220(77)90419-4

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


  2 in total

Review 1.  Clinical and radiographic maxillofacial features of pycnodysostosis.

Authors:  Nilton Alves; Mario Cantín
Journal:  Int J Clin Exp Med       Date:  2014-03-15

2.  Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.

Authors:  M Matsushita; H Kitoh; H Kaneko; K Mishima; Y Itoh; T Hattori; N Ishiguro
Journal:  Mol Syndromol       Date:  2012-03-06
  2 in total

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