Senior-Loken syndrome with unusual manifestations.
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.
Singh
N P
NP
Nephrology Division, Department of Medicine Maulana Azad Medical College and Associated Lok Nayak Hospital, India.
Anuradha
S
S
Gupta
S
S
Rizvi
S N
SN
Arora
R
R
D000328:Adult; D003317:Corneal Dystrophies, Hereditary / Q000150:complications* / Q000503:physiopathology*; D004596:Electroretinography; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging*; D006801:Humans; D007674:Kidney Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011859:Radiography; D013577:Syndrome; D014463:Ultrasonography