320 - Clinical Considerations in a Patient with Nager Syndrome

Nager syndrome is a rare genetic mutation of the SF3B4 gene that causes abnormal development in the face and extremities. Most cases are isolated incidences, rather than inherited disorders. Pierre Robin Sequence (PRS) is defined by the concurrent presence of micrognathia, glossoptosis, and cleft palate. This case report discusses a 20-year-old female patient with Nager syndrome and the triad of features of PRS, her treatment, and prognosis. The patient has had multiple surgeries for the placement of bilateral TMJ prostheses. Clinically, she has experienced generalized facial paralysis since childhood. Progressive trismus and prosthesis dysfunction has limited her mouth opening to approximately 3mm, which is a significant barrier to mastication, oral hygiene, routine care, and diagnosis and treatment of dental disease. The patient’s care has involved a multi-disciplinary approach including plastic surgery, oral surgery, and pediatric dentistry.

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