Cleidocranial Dysplasia: A Clinico-radiographic Spectrum with Differential Diagnosis.
BACKGROUND
Cleidocranial dysplasia (CCD) is characterized by aplasia or hypoplasia of the clavicles, characteristic craniofacial malformations, and the presence of numerous supernumerary and unerupted teeth. It affects bones derived from both intra-membranous and endochondral ossification. Incidence has been reported as 1 in 10,00,000. It is caused by mutation in the gene encoding transcription factor Core Binding Factor Subunit Alpha l (CBFAl) or Runt related transcription factor 2 (RUNX2).


METHODS
This presentation discusses the clinical and radiographic features of a familial case of cleidocranial dysplasia occurring in a father and a child. All the clinical and radiographic features, except that of the chest x-ray, were more prominent in the child than the father. This supports the fact that CCD is transmitted by an autosomal-dominant mode of inheritance with high penetrance and variable expressivity. It is sporadic in about 40% of cases. Each child of an individual with CCD has a 50% chance of in heriting the mutation.


CONCLUSIONS
Diagnosis is mostly made on the basis of clinical and radiographic features. Molecular genetic testing such as sequence analysis or deletion analysis can be used in cleidocranial dysplasia. Some cases are diagnosed through incidental findings by physicians, treating patients for unrelated conditions. Treatment of these patients requires a multidisciplinary approach which includes orthopaedic and dental corrections along with management of any complications of cleidocranial dysplasia.
Department of Oral Pathology & Microbiology, Government Dental College & Hospital, Dhanwantari Nagar, Ghati Campus, Aurangabad, Maharashtra, India-431001.
Purva Prakash
PP
Patil
Department of Oral Pathology & Microbiology, Government Dental College & Hospital, Dhanwantari Nagar, Ghati Campus, Aurangabad, Maharashtra, India-431001.
Suresh Ramchandra
SR
Barpande
Department of Oral Pathology & Microbiology, Government Dental College & Hospital, Dhanwantari Nagar, Ghati Campus, Aurangabad, Maharashtra, India-431001.
Jyoti Dilip
JD
Bhavthankar
Department of Oral Pathology & Microbiology, Government Dental College & Hospital, Dhanwantari Nagar, Ghati Campus, Aurangabad, Maharashtra, India-431001.
Jayanti G
JG
Humbe
Cleidocranial dysplasia; Core Binding Factor Subunit Alpha 1 (CBFA1); Coxa vara; pseudoepiphyses; wormian bones