Literature DB >> 3309919

Epstein's syndrome: case report and survey of the literature.

G R Standen1, J Saunders, J Michael, A L Bloom.   

Abstract

A diagnosis of Epstein's syndrome was made in a young female with congenital macrothrombopathic thrombocytopenia, a nephropathy and mild sensorineural deafness. Previous case reports of this rare disorder are briefly reviewed and attention is drawn to the frequent association between inherited thrombocytopenia and renal disease.

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Year:  1987        PMID： 3309919      PMCID： PMC2428365          DOI： 10.1136/pgmj.63.741.573

Source DB:  PubMed          Journal:  Postgrad Med J        ISSN： 0032-5473            Impact factor:   2.401


  15 in total

1.  Renal disease, inner ear deafness, and ocular changes; a new heredofamilial syndrome.

Authors:  E SOHAR
Journal:  AMA Arch Intern Med       Date:  1956-05

2.  Hereditary thrombocytopenia, deafness, and renal disease.

Authors:  J D Eckstein; D J Filip; J C Watts
Journal:  Ann Intern Med       Date:  1975-05       Impact factor: 25.391

3.  Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.

Authors:  L C Peterson; K V Rao; J T Crosson; J G White
Journal:  Blood       Date:  1985-02       Impact factor: 22.113

4.  Thrombocytopenia, macrothrombocytopathia, nephritis and deafness.

Authors:  J Bernheim; M Dechavanne; P A Bryon; M Lagarde; S Colon; N Pozet; J Traeger
Journal:  Am J Med       Date:  1976-07       Impact factor: 4.965

5.  Hereditary renal disease with neurosensory hearing loss, prolinuria and ichthyosis.

Authors:  R A Goyer; J Reynolds; J Burke; P Burkholder
Journal:  Am J Med Sci       Date:  1968-09       Impact factor: 2.378

6.  Immunothrombocytopenia and IgA nephritis.

Authors:  H P Spichtin; B Truniger; M J Mihatsch; U Bucher; F Gudat; H U Zollinger
Journal:  Clin Nephrol       Date:  1980-12       Impact factor: 0.975

7.  Hereditary nephritis associated with May-Hegglin anomaly.

Authors:  F Brivet; R Girot; C Barbanel; C Gazengel; M Maier; J Crosnier
Journal:  Nephron       Date:  1981       Impact factor: 2.847

8.  Hereditary nephritis, deafness and abnormal thrombopoiesis. Study of a new kindred.

Authors:  K P Parsa; D B Lee; L Zamboni; R J Glassock
Journal:  Am J Med       Date:  1976-05-10       Impact factor: 4.965

9.  Alport's syndrome associated with macrothrombopathic thrombocytopenia.

Authors:  N M Clare; M M Montiel; M D Lifschitz; G A Bannayan
Journal:  Am J Clin Pathol       Date:  1979-07       Impact factor: 2.493

10.  Nephropathy in the Wiskott-Aldrich syndrome.

Authors:  L E Spitler; B B Wray; S Mogerman; J J Miller; R J O'Reilly; M Lagios
Journal:  Pediatrics       Date:  1980-09       Impact factor: 7.124
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  2 in total

1.  Hereditary nephritis, platelet disorders and deafness-Epstein's syndrome.

Authors:  S Túri; J Kóbor; A Erdös; T Bodrogi; I Virág; J Ormos
Journal:  Pediatr Nephrol       Date:  1992-01       Impact factor: 3.714

2.  The use of pan-retinal photocoagulation to treat recurrent vitreous haemorrhage with neovascularisation in the context of Epstein syndrome: an MYH9-related disorder.

Authors:  Francis William Barwise Sanders; Emma Thompson; Harry Roberts; Nitin Gupta
Journal:  BMJ Case Rep       Date:  2019-12-29
  2 in total

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