Cleidocranial dysplasia: a family report.
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.
Chelvan
H Thamizh
HT
Department of Oral Pathology, and Orthodontia, Sri Ramachandra Dental College, Porur, Chennai, India. chelvandrthamizh@yahoo.co.in
Malathi
N
N
Kailasam
Vignesh
V
Ponnudurai
A
A
D002648:Child; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D050657:Core Binding Factor alpha Subunits / Q000235:genetics; D005146:Facial Asymmetry / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D014095:Tooth, Impacted / Q000235:genetics; D014096:Tooth, Supernumerary / Q000235:genetics; D014097:Tooth, Unerupted / Q000235:genetics
D050657:Core Binding Factor alpha Subunits