Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture

oleh: Vathsala Patil, Shruthi Acharya, Chandni Proothi, Pratichi Tripathi, Aditi Tamrakar, Ravindranath Vineetha

Format: Article
Diterbitkan: Krishna Vishwa Vidyapeeth (Deemed to be University), Karad 2021-07-01

Deskripsi

Joubert Syndrome (JS) is a rare congenital condition first reported by French Neurologist Marie Joubert in 1969 which shows multi-organ manifestations including developmental, neurological, renal, hepatic, ocular and orofacial abnormalities. This condition also shows a unique neuro-radiological imaging feature “Molar Tooth Sign” (MTS) in MRI. We report a case of a young boy of consanguineous parents who presented to the dental department with some unique orofacial features along with a discussion on the various general, orofacial, and imaging features and management of this condition.