Article ViewAbstractInternational Journal of Medicine and Public Health,2014,4,4,504-506.DOI:10.4103/2230-8598.144130Published:October/2014Type:Case ReportOculo-orofaciodigital defect with endocrinopathy in Joubert syndrome: A rare combinationBharat Bhushan, Amita Bhargava, Gaurav Kasundra, Shubhakaran Khichar, Janardan Sharma, and Banakar Basavaraj Bharat Bhushan, Amita Bhargava, Gaurav Kasundra, Shubhakaran Khichar, Janardan Sharma, Banakar Basavaraj Department of Neurology, Dr. S.N. Medical College and M.G. Hospital, Jodhpur, Rajasthan, India Abstract:Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of molar tooth sign (MTS) on axial magnetic resonance images (MRI). Six phenotypic subgroups are known in JS: Pure JS, JS with ocular defect, JS with renal defect, JS with oculo renal defects, JS with hepatic defect, and JS with orofaciodigital defects. We are reporting a case of 14-year-old boy, who presented with oculoorofaciodigital defect (polydactyly, syndactyly, ankyloglossia, ptosis, retinal dystrophy) with endocrinopathy (gynecomastia, micropenis, low testosterone) and MRI suggestive of MTS. Such kind of oculo-orofaciodigital defect with endocrinopathy (without puebarche, thalarche and menarche until the age of 17 years with hormonal disturbance) was also found in his elder sister. JS with endocrinopathy is a rare presentation, this is either expansion of the spectrum of JS in Indian people or a combination with endocrinopathy can evolve in later age. Keywords:Endocrinopathy, Joubert, molar tooth sign, Oculo-orofaciodigitalView:PDF (986.04 KB) PDFClick here to download the PDF file. ‹ Menstrual hygiene practices: Is it practically impractical? up Pattern and determinants of respiratory mortality in Kerala, South India ›