Cleidocranial Dysplasia in a 10-year-old Child: A Case Report

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Familial Cleidocranial Dysplasia in a Neonate: A Case Report

Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...

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[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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Cleidocranial Dysplasia: A Case Report

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease. CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2(RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis, a...

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ژورنال

عنوان ژورنال: International Journal of Clinical Pediatric Dentistry

سال: 2019

ISSN: 0974-7052,0975-1904

DOI: 10.5005/jp-journals-10005-1634