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ID: 411627.0, MPI für molekulare Genetik / Research Group Development and Disease
Cleidocranial dysplasia in a mother and her two children
Authors:Pamuka, Ömer Nuri; Mundlos, Stefan; Çakir, Necati
Language:English
Research Context:Case report
Date of Publication (YYYY-MM-DD):2008-12-01
Title of Journal:Joint Bone Spine
Journal Abbrev.:Joint Bone Spine
Volume:75
Issue / Number:6
Start Page:725
End Page:727
Copyright:© 2008 Elsevier Masson SAS All rights reserved.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:Cleidocranial dysplasia; Chronic widespread pain; Runx2
Comment of the Author/Creator:Corresponding author. Altunizade, Okul Sokak, Erzurum Sitesi, No: 19/5, Üsküdar, 81190 İstanbul, Turkey.
Tel.: +90 284 235 00 01.
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Department of Rheumatology, Trakya Medical Faculty, University of Trakya, Edirne, Turkey.
Identifiers:URL:http://www.sciencedirect.com/science?_ob=ArticleUR...
DOI:10.1016/j.jbspin.2007.10.013
ISSN:1297-319X
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