Vol. 5, Issue 3 (2019)
A rare case report of Joubert syndrome related disorder: Overlap of OFD type Ii & Type Vi
Author(s): Dr. Snigdha Ganta, Dr. Manas Ranjan Sahoo
Abstract: Joubert syndrome and related disorders (JSRD) are a clinically and genetically heterogenous group of disorders characterized by hypoplasia of the cerebellar vermis and developmental delay. The hallmark for diagnosis is molar tooth sign on MRI. Here we present a rare case of Joubert syndrome with orofacial digital defects, an overlap of type II and type VI.