Senior-Loken syndrome with unusual manifestations.
Article
in English
| IMSEAR
| ID: sea-85071
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Pedigree
/
Syndrome
/
Female
/
Humans
/
Male
/
Corneal Dystrophies, Hereditary
/
Adult
/
Electroretinography
/
Hand
/
Kidney Diseases
Language:
English
Year:
1998
Type:
Article
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