Cleidocranial dysplasia in a mother and her two children
Küçük Resim Yok
Tarih
2008
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier France-Editions Scientifiques Medicales Elsevier
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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 oil DEXA. It is unclear whether CCD has or does not have a causal relationship with widespread pain. (C) 2008 Elsevier Masson SAS. All rights reserved.
Açıklama
Anahtar Kelimeler
Cleidocranial Dysplasia, Chronic Widespread Pain, Runx2, Hypophosphatasia, Mutations, Cbfa1, Gene
Kaynak
Joint Bone Spine
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
75
Sayı
6
