Literature DB >> 17901676

Revesz syndrome.

A Riyaz1, Najeeba Riyaz, M P Jayakrishnan, P T Mohamed Shiras, V T Ajith Kumar, Bindu S Ajith.   

Abstract

A 5-year-old girl was admitted with pallor, hypopigmented sparse hair, tongue ulcers, atrophic nail changes, hypoplastic anemia and bilateral exudative retinopathy. A diagnosis of Revesz syndrome was made. She had the additional features of retinal detachment and retinitis pigmentosa, which are hitherto unreported in this syndrome.

Entities:  

Mesh:

Year:  2007        PMID: 17901676     DOI: 10.1007/s12098-007-0155-2

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  3 in total

Review 1.  Bone marrow failure syndromes in children.

Authors:  Blanche P Alter
Journal:  Pediatr Clin North Am       Date:  2002-10       Impact factor: 3.278

2.  Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs.

Authors:  P Kajtár; K Méhes
Journal:  Am J Med Genet       Date:  1994-02-15

3.  Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

Authors:  T Revesz; S Fletcher; L I al-Gazali; P DeBuse
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

  3 in total
  4 in total

Review 1.  The genetics of dyskeratosis congenita.

Authors:  Philip J Mason; Monica Bessler
Journal:  Cancer Genet       Date:  2011-12

Review 2.  The genetics and clinical manifestations of telomere biology disorders.

Authors:  Sharon A Savage; Alison A Bertuch
Journal:  Genet Med       Date:  2010-12       Impact factor: 8.822

Review 3.  Ocular manifestations of idiopathic aplastic anemia: retrospective study and literature review.

Authors:  Ahmad M Mansour; Jong Wook Lee; Seung Ah Yahng; Kyu Seop Kim; Maha Shahin; Nelson Hamerschlak; Rubens N Belfort; Shree K Kurup
Journal:  Clin Ophthalmol       Date:  2014-04-17

Review 4.  Revesz syndrome revisited.

Authors:  Michael Karremann; Eva Neumaier-Probst; Frank Schlichtenbrede; Fabian Beier; Tim H Brümmendorf; Friedrich W Cremer; Peter Bader; Matthias Dürken
Journal:  Orphanet J Rare Dis       Date:  2020-10-23       Impact factor: 4.123

  4 in total

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