Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture

Abstract

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.

Keywords

• tongue hamartomas
• joubert syndrome
• pathologic fracture
• ciliopathies
• polydactyly
• syndactyly
• nasal bridge
• hypertelorism