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Journal Article

Cleidocranial dysplasia in a mother and her two children


Mundlos,  Stefan
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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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.

Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-7EA0-3
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.