Cleidocranial dysplasia in a mother and her two children - 06/01/09
Corresponding author. Altunizade, Okul Sokak, Erzurum Sitesi, No: 19/5, Üsküdar, 81190 İstanbul, Turkey. Tel.: +90 284 235 00 01.Bienvenue sur EM-consulte, la référence des professionnels de santé.
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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.
Le texte complet de cet article est disponible en PDF.Keywords : Cleidocranial dysplasia, Chronic widespread pain, Runx2
Plan
Vol 75 - N° 6
P. 725-727 - décembre 2008 Retour au numéro
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