A rare case report of Joubert syndrome related disorder: Overlap of OFD type Ii & Type Vi
Journal Title: International Journal of Medical and Health Research - Year 2019, Vol 5, Issue 3
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.
Authors and Affiliations
Dr. Snigdha Ganta, Dr. Manas Ranjan Sahoo
Keywords
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