Cleidocranial dysplasia in a mother and her two children.
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.
Pamuk
Omer Nuri
ON
Department of Rheumatology, Trakya Medical Faculty, University of Trakya, Edirne, Turkey.
Mundlos
Stefan
S
Cakir
Necati
N
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002968:Clavicle / Q000002:abnormalities / Q000000981:diagnostic imaging; D002973:Cleidocranial Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D005356:Fibromyalgia / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D010146:Pain / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D011110:Polymorphism, Genetic; D011859:Radiography; D017422:Sequence Analysis, DNA; D012886:Skull / Q000000981:diagnostic imaging
D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human