Literature DB >> 19915277

Cleidocranial dysplasia: a family report.

H Thamizh Chelvan1, N Malathi, Vignesh Kailasam, A Ponnudurai.   

Abstract

A 10-year-old girl presented with a chief complaint of many unerupted teeth. Complete clinical and radiological examination of this patient confirmed the diagnosis of cleidocranial dysplasia (CCD). Her father also presented similar features with a lesser clinical severity. CCD is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2 gene. Failure of tooth eruption is probably mainly due to this mutated gene in CCD patients. Interdisciplinary treatment approach is obligatory for rehabilitation of these patients. In confirmed cases, genetic counseling for family planning should certainly be advised.

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Year:  2009        PMID: 19915277     DOI: 10.4103/0970-4388.57661

Source DB:  PubMed          Journal:  J Indian Soc Pedod Prev Dent        ISSN: 0970-4388


  4 in total

1.  A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia.

Authors:  Ting Chen; Jin Hou; Ling-Ling Hu; Jie Gao; Bu-Ling Wu
Journal:  Int J Clin Exp Pathol       Date:  2014-04-15

Review 2.  Delayed Eruption of Permanent Dentition and Maxillary Contraction in Patients with Cleidocranial Dysplasia: Review and Report of a Family.

Authors:  A Impellizzeri; G Midulla; U Romeo; C La Monaca; E Barbato; G Galluccio
Journal:  Int J Dent       Date:  2018-07-04

3.  A 13-year-old Caucasian boy with cleidocranial dysplasia: a case report.

Authors:  Olga-Elpis Kolokitha; Ioulia Ioannidou
Journal:  BMC Res Notes       Date:  2013-01-05

4.  Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.

Authors:  Ebrahim Jamali; Raziyeh Khalesi; Fatemeh Bitarafan; Navid Almadani; Masoud Garshasbi
Journal:  Iran Biomed J       Date:  2021-07-01
  4 in total

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