International Journal of Medical and Health Research

International Journal of Medical and Health Research


International Journal of Medical and Health Research
International Journal of Medical and Health Research
Vol. 5, Issue 3 (2019)

A rare case report of Joubert syndrome related disorder: Overlap of OFD type Ii & Type Vi


Dr. Snigdha Ganta, Dr. Manas Ranjan Sahoo

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.
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How to cite this article:
Dr. Snigdha Ganta, Dr. Manas Ranjan Sahoo. A rare case report of Joubert syndrome related disorder: Overlap of OFD type Ii & Type Vi. International Journal of Medical and Health Research, Volume 5, Issue 3, 2019, Pages 112-113
International Journal of Medical and Health Research