MARIE - SAINTON SYNDROME - A CASE REPORT OF TWO FAMILIAL CASES
*Dr. I. Ilangani, Dr. A. Kannan, Dr. C. L. Krithika, Dr. Yesodha Aniyan and Dr. Parimala
ABSTRACT
Background: Marie Sainton syndrome is an inherited autosomal dominant disorder characterised by skeletal dysplasia, primarily affecting the development of bones and teeth, caused by mutations in the core binding factor alpha -1 (CBFA-1) gene, also called as RUNX2 (Runt related transcrip- tion factor 2) gene located on 6p21 chromosome. It is a very rare condition with incidence of 1 per million individuals. Aim and objectives: To present a case report of affected daughter and father whose diagnosis was made by means of clinical and radiographic findings and to discuss about the clinical features, di- agnosis, management and inheritance pattern of the condition. Conclusion: Early diagnosis of CCD is difficult as the craniofacial abnormalities becomes more obvious during adolescence. A multidisciplinary approach is required for management of such man- ifestations to improve the quality of life of these patients.
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