460 - Johanson-Blizzard Syndrome: A Case Report

Johanson-Blizzard syndrome is a rare genetic condition that results from a defect on the UBR1 gene located on chromosome 15. This mutation affects multiple organ systems such as the pancreas, central nervous system, nose, ears, thyroid, and oral cavity. This includes dental anomalies such as small, malformed primary teeth and the absence of permanent dentition. This case report consists of medical background and dental considerations regarding the treatment planning of an 8 year 2-month-old female patient with Johanson-Blizzard Syndrome.