Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities

Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities

A boy aged 9 3/4 years with interstitial nephritis, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities is described. The association may be due to a new genetic disorder, since 2 similar cases have been reported.

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Bibliographische Detailangaben
Veröffentlicht in:Archives of disease in childhood 1976-10, Vol.51 (10), p.801-803
Hauptverfasser: Popović-Rolović, M, Calić-Perisíc, N, Bunjevacki, G, Negovanović, D
Format: Artikel
Sprache:eng
Schlagworte:
Biopsy
Bone Diseases, Developmental - complications
Cerebellar Ataxia - complications
Child
Child, Preschool
Dystrophy
Fanconi Syndrome - complications
Humans
Infant
Kidney - pathology
Male
Retinitis Pigmentosa - complications
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Beschreibung
Zusammenfassung:A boy aged 9 3/4 years with interstitial nephritis, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities is described. The association may be due to a new genetic disorder, since 2 similar cases have been reported.
ISSN:0003-9888
1468-2044
DOI:10.1136/adc.51.10.801