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  • Title: Senior-Loken syndrome with unusual manifestations.
    Author: Singh NP, Anuradha S, Gupta S, Rizvi SN, Arora R.
    Journal: J Assoc Physicians India; 1998 Aug; 46(8):740-2. PubMed ID: 11229290.
    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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