This report concerns a boy presenting renal disease with tubulointerstitial nephropathy which suggests familial juvenile nephronophthisis, hepatosplenomegaly due to congenital hepatic fibrosis, tapetoretinal degeneration, probable endocrine involvement and congenital skeletal abnormalities. The associations presented in this paper have not previously been reported.
|Number of pages||7|
|Journal||Helvetica Paediatrica Acta|
|Publication status||Published - 1988|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health