Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture

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 imag...

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Bibliographic Details
Published in:	Journal of Krishna Institute of Medical Sciences University Vol. 10; no. 3; pp. 88 - 93
Main Authors:	Vathsala Patil, Shruthi Acharya, Chandni Proothi, Pratichi Tripathi, Aditi Tamrakar, Ravindranath Vineetha
Format:	Journal Article
Language:	English
Published:	Krishna Vishwa Vidyapeeth (Deemed to be University), Karad 01-07-2021
Subjects:	ciliopathies hypertelorism joubert syndrome nasal bridge pathologic fracture polydactyly syndactyly tongue hamartomas
Online Access:	Get full text
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Summary:	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.
ISSN:	2231-4261