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  Cleidocranial dysplasia in a mother and her two children

Pamuka, Ö. N., Mundlos, S., & Çakir, N. (2008). Cleidocranial dysplasia in a mother and her two children. Joint Bone Spine, 75(6), 725-727. doi:10.1016/j.jbspin.2007.10.013.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7EA0-3 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7EA1-1
Genre: Journal Article
Alternative Title : Joint Bone Spine

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 Creators:
Pamuka, Ömer Nuri, Author
Mundlos, Stefan1, Author              
Çakir, Necati, Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: Cleidocranial dysplasia; Chronic widespread pain; Runx2
 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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Language(s): eng - English
 Dates: 2008-12-01
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Method: -
 Degree: -

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Title: Joint Bone Spine
  Alternative Title : Joint Bone Spine
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 75 (6) Sequence Number: - Start / End Page: 725 - 727 Identifier: ISSN: 1297-319X