Twins with senior-Loken syndrome.
Indian J Pediatr
; 73(11): 1041-3, 2006 Nov.
Article
em En
| MEDLINE
| ID: mdl-17127790
ABSTRACT
Senior-Loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. The eye disease may be congenital amaurosis of Leber type or pigmentary retinal degeneration and electroretinogram (ERG) helps in the diagnosis of these varieties. The disease progresses inexorably to chronic renal failure. Here is a case of twins with Senior-Loken syndrome emphasizing the importance of ophthalmic examination in children with renal failure, for determining a correct diagnosis.
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Base de dados:
MEDLINE
Assunto principal:
Retinose Pigmentar
/
Doenças em Gêmeos
/
Nefrite Intersticial
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article