Pyknodysostosis--a report of two cases with a brief review of the literature

Int J Oral Maxillofac Surg. 2000 Dec;29(6):439-42.


Pyknodysostosis is a rare sclerosing bone disorder that has an autosomal dominant trait. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis, where multiple fractures of long bones and osteomyelitis of the jaw are frequent complications. We present a report of two cases of pyknodysostosis with evidence of long bone fractures and chronic suppurative osteomyelitis of the jaws in one of the cases. Some of the specific oral and radiological findings that are consistent with pyknodysostosis are reported, along with a brief review of the literature.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Chronic Disease
  • Cleidocranial Dysplasia / diagnosis
  • Diagnosis, Differential
  • Dwarfism / complications*
  • Dwarfism / pathology
  • Dysostoses / complications*
  • Dysostoses / diagnosis
  • Dysostoses / pathology
  • Fractures, Spontaneous / etiology
  • Humans
  • Male
  • Mandibular Diseases / etiology
  • Mandibular Fractures / etiology
  • Osteomyelitis / etiology
  • Osteopetrosis / diagnosis
  • Periodontal Abscess / etiology