Literature DB >> 3588071

A new syndrome with ocular, skeletal and renal involvement.

M Cirillo Silengo, G Lopez Bell, M Biagioli, A Guala, G Porcellini, P Franceschini.   

Abstract

A patient with retinitis pigmentosa, hypertension with interstitial nephropathy, short limb dwarfism with Madelung deformity of the forearms and an unclassified type of brachydactyly is described. Such bone dysplasia has never been reported to date either as a single entity or associated with renal and retinal diseases.

Entities:  

Mesh：

Year:  1987        PMID： 3588071     DOI： 10.1007/bf02388169

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  8 in total

1.  FAMILIAL NEPHROPATHY WITH RETINITIS PIGMENTOSA; A NEW OCULORENAL SYNDROME IN ADULTS.

Authors:  D A MEIER; J W HESS
Journal:  Am J Med       Date:  1965-07       Impact factor: 4.965

2.  Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.

Authors:  B SENIOR; A I FRIEDMANN; J L BRAUDO
Journal:  Am J Ophthalmol       Date:  1961-11       Impact factor: 5.258

3.  Hereditary brachydactyly associated with hypertension.

Authors:  N Bilginturan; S Zileli; S Karacadag; T Pirnar
Journal:  J Med Genet       Date:  1973-09       Impact factor: 6.318

4.  Hereditary nephritis, retinitis pigmentosa and chromosomal abnormalities.

Authors:  H E Sarles; A E Rodin; P R Poduska; G H Smith; J C Fish; A R Remmers
Journal:  Am J Med       Date:  1968-08       Impact factor: 4.965

5.  Hereditary renal-retinal dysplasia.

Authors:  R N Schimke
Journal:  Ann Intern Med       Date:  1969-04       Impact factor: 25.391

6.  Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.

Authors:  F Mainzer; R M Saldino; M B Ozonoff; H Minagi
Journal:  Am J Med       Date:  1970-10       Impact factor: 4.965

7.  Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.

Authors:  C I Phillips; R Wynne-Davies; N L Stokoe; M Newton
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318

8.  [Familial nephropathy with retinitis pigmentosa and peripheral dysostosis].

Authors:  L Diekmann; C Louis; E Schulte-Kemna
Journal:  Helv Paediatr Acta       Date:  1977-11
  8 in total
  1 in total

1.  A new syndrome with cerebro-oculo-skeletal-renal involvement.

Authors:  M C Silengo; M Lerone; A Pelizza; R Gatti; A Barabino; G Romeo
Journal:  Pediatr Radiol       Date:  1990
  1 in total

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