JOUBERT SYNDROME AND RELATED DISORDERS  RENAL MANIFESTATIONS, NEUROLOGICAL AND SKELETAL CHANGES : A CASE REPORT

Janani Kalyanaraman; Arunan Murali

Volume : VI, Issue : X, October - 2017

JOUBERT SYNDROME AND RELATED DISORDERS RENAL MANIFESTATIONS, NEUROLOGICAL AND SKELETAL CHANGES : A CASE REPORT

Janani Kalyanaraman, Arunan Murali

Abstract :

Joubert syndrome [JS] is an autosomal recessive neurodevelopmental disorder involving the cerebellar vermis and ainstem. Isolated Joubert syndrome is seldom noted as compared to Joubert syndrome and related disorders [JSRD]. We report a rare case of renal rickets as a complication of Joubert syndrome and related disorders [occulo renal phenotype]. Jouberts syndrome with occulo renal defects and oro facial digital defects were diagnosed and confirmed by radiological investigations [MRI,USG,X–RAY]