Research Article | Open Access
Diagnosis and Dental Management of a 5 year old child with Freeman-Sheldon Syndrome: A Case Report Study
Gandhali Malgaonkar Joshi , Sayali Belsare, Alok Patel, Shweta Jajoo
Pages: 1136-1141
Abstract
A 5-year-oldfemale patient reported to the department of Pediatric Dentistry with a chief complaint ofinability to eat
due to multiple carious teeth in the mouth. Various intra oral as well as extra oral features pointed towards a clinical
diagnosis of Freeman Sheldon syndrome (FSS) and hence a genetic testing was advised. An exome based analysis
for relevant genesindicated absence of any alleles of clinical relevance. This suggests that the patient belongs to the
minority group of close to 7% subjects that present clinical features of FSS without genetic defect in the related
genes. Due to the multiple treatment procedures needed, a full mouth rehabilitationwas carried out for the patient
successfully, under general anesthesia.
Keywords
Freeman- Sheldon Syndrome, Freeman Burian syndrome, full mouth rehabilitation, rare diseases