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Published on: July 29, 2007
Senior-Loken syndrome with unusual manifestations
N P Singh1, S Anuradha, S Gupta
1Nephrology Division, Department of Medicine Maulana Azad Medical College and Associated Lok Nayak Hospital, India.
Abstract:
The Senior-Loken syndrome, also called Hereditary Renal Retinal Dystrophy is a rare disorder that combines a juvenile nephronophthisis-like disease with tapetoretinal degeneration. We are reporting a family in which two, possibly three siblings are affected by this disorder. In addition to these two documented components of the disease, our patients also have unusual manifestations: short stature; skeletal abnormalities in the form of kyphoscoliosis, short metacarpals; and cutis laxa-unreported so far.
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