Dysregulation of Chondrogenesis in Human Cleidocranial Dysplasia
نویسندگان
چکیده
منابع مشابه
Cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder resulting in the skeletal and dental abnormalities due to the disturbance in ossification of the bones. Clavicle is the most commonly affected bone. The prevalence of CCD is one in millions of live births. In this report, we present a case of 10-years-old boy showing features of this condition.
متن کاملFamilial Cleidocranial Dysplasia
Cleidocranial dysplasia or mutational dysostosis or cleidocranial dysostosis is a generalized skeletodental dysplastic disorder, inherited in an autosomal dominant pattern. The expression of this disorder can vary widely in severity, even within the same family. This is a relatively rare disease and has no standard effective treatment option as of yet. Here we present a case report of affected ...
متن کاملRUNX2 mutations in cleidocranial dysplasia.
The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation. Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients. CCD is a rare autosomal dominant skeletal dysplasia that is characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicle formation, short stature, and dental ...
متن کاملCleidocranial Dysplasia-Unearthing the Treasure
Cleidocranial dysplasia is an autosomal dominant condition caused by mutation of RUNX2, involving the skeleton and the teeth. It presents with a major finding of the hypoplasia or aplasia of clavicles along with late closure of the fontanels, presence of open skull sutures and multiple wormian bones. Although not frequent it can present to the dentist commonly with significant retention of mult...
متن کامل[Cleidocranial dysplasia: a case report].
A 3-month-old female infant who presented with patent sagittal suture and loss of weight is described. Physical examination revealed a large sagittal and metopic suture showing delayed closure, a high-arched palate, saddle nose, hypertelorism and nonpalpable edges of the bilateral clavicles. The clavicles also showed undue mobility. Radiological investigations of the cranial skeletal abnormalit...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2005
ISSN: 0002-9297
DOI: 10.1086/432261