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Cleidocranial dysplasia in a mother and her two children

Authors
Journal
Joint Bone Spine
1297-319X
Publisher
Elsevier
Publication Date
Volume
75
Issue
6
Identifiers
DOI: 10.1016/j.jbspin.2007.10.013
Keywords
  • Cleidocranial Dysplasia
  • Chronic Widespread Pain
  • Runx2
Disciplines
  • Medicine

Abstract

Abstract Cleidocranial dysplasia (CCD) is an autosomal dominant disease characterized by skeletal abnormalities which is secondary to haploinsufficiency of the transcription factor Runx2 that plays a role in osteoblast differentiation. In this report, we present a female patient who came to our Rheumatology outpatient clinic with widespread pain, who was diagnosed with fibromyalgia (FM), and who was investigated because of her phenotypic features together with her two children; and consequently, diagnosed with CCD. The diagnosis of CCD was confirmed with genetic analysis. The patient whose alkaline phosphatase was low had no osteoporosis on DEXA. It is unclear whether CCD has or does not have a causal relationship with widespread pain.

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