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Journal of Case Reports
Arthrogryposis, Renal Dysfunction, Cholestasis Syndrome with Scalp Hypotrichosis

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Maaz Ahmed, Sushma U Save, Ruchi Mantri
Department of Pediatrics, Topiwala Medical College and BYL Nair Hospital, Mumbai 400008, India.
Corresponding Author:
Dr. Maaz Ahmed
Email: maazindian@gmail.com
Received: 16-MAR-2016 Accepted: 26-MAY-2016 Published Online: 10-AUG-2016
DOI: http://dx.doi.org/10.17659/01.2016.0089
Abstract
Arthrogryposis, renal dysfunction, cholestasis syndrome is an inherited disorder which involves multiple organs, with presentation evolving along the course of the disease.  Two month old female child presented with three cardinal features, arthrogryposis, renal tubular acidosis and cholestasis, along with failure to thrive, giant platelets and paucity of bile ducts on histopathology of liver. Our child also had choroidal sclerosis and scalp hypotrichosis with seborrheic dermatitis. We are reporting this case to focus on wide range of associated manifestations, early detection, optimum management and genetic counselling in view poor prognosis.        
Keywords : Acidosis, Choroidal Sclerosis, Hypotrichosis, Seborrheic Dermatitis.
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