Open AccessCleidocranial dysplasia: A family report
Author(s) -
H Thamizh Chelvan,
Malathi Narasimhan,
Vignesh Kailasam,
A Ponnudurai
Publication year - 2009
Publication title -
journal of the indian society of pedodontics and preventive dentistry/journal of indian society of pedodontics and preventive dentistry
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.378
H-Index - 33
eISSN - 1998-3905
pISSN - 0970-4388
DOI - 10.4103/0970-4388.57661
Subject(s) - cleidocranial dysplasia , osteochondrodysplasia , medicine , runx2 , girl , dysplasia , dentistry , tooth disease , genetic counseling , radiological weapon , disease , pediatrics , orthodontics , transcription factor , gene , pathology , genetics , surgery , biology , supernumerary
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.