Senior-Loken syndrome with unusual manifestations.
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Linaje
/
Síndrome
/
Femenino
/
Humanos
/
Masculino
/
Distrofias Hereditarias de la Córnea
/
Adulto
/
Electrorretinografía
/
Mano
/
Enfermedades Renales
Idioma:
Inglés
Año:
1998
Tipo del documento:
Artículo
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