Literature DB >> 8160728

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

P Kajtár1, K Méhes.   

Abstract

A 2-year-old girl presented with thrombocytopenic purpura. Clinical examination and follow-up documented severe bone marrow hypoplasia associated with bilateral progressive Coats retinopathy, nail dystrophy, fine hair, and apparent chromosome instability. The syndrome is regarded as a variant of the Révész syndrome sharing some findings of dyskeratosis congenita.

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Mesh:

Year:  1994        PMID: 8160728     DOI: 10.1002/ajmg.1320490404

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  18 in total

1.  Revesz syndrome.

Authors:  A Riyaz; Najeeba Riyaz; M P Jayakrishnan; P T Mohamed Shiras; V T Ajith Kumar; Bindu S Ajith
Journal:  Indian J Pediatr       Date:  2007-09       Impact factor: 1.967

2.  Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy.

Authors:  Akshay Sharma; Kasiani Myers; Zhan Ye; John D'Orazio
Journal:  Pediatr Blood Cancer       Date:  2014-07-25       Impact factor: 3.167

Review 3.  Dyskeratosis congenita as a disorder of telomere maintenance.

Authors:  Nya D Nelson; Alison A Bertuch
Journal:  Mutat Res       Date:  2011-07-02       Impact factor: 2.433

4.  Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.

Authors:  Ekaterini T Tsilou; Neelam Giri; Sarah Weinstein; Christine Mueller; Sharon A Savage; Blanche P Alter
Journal:  Ophthalmology       Date:  2009-12-22       Impact factor: 12.079

5.  Dyskeratosis congenita- management and review of complications: a case report.

Authors:  Shivam Sinha; Vikas Trivedi; Arvind Krishna; Nidhi Rao
Journal:  Oman Med J       Date:  2013-07

6.  The neuroradiological findings in a case of Revesz syndrome.

Authors:  Meir H Scheinfeld; Yvonne W Lui; Edward A Kolb; Harry M Engel; William A Gomes; Karen M Weidenheim; Jacqueline A Bello
Journal:  Pediatr Radiol       Date:  2007-09-14

7.  PERIPHERAL RETINOPATHY ASSOCIATED WITH APLASTIC ANEMIA.

Authors:  Tatyana I Metelitsina; Veeral S Sheth; Shuchi B Patel; Michael A Grassi
Journal:  Retin Cases Brief Rep       Date:  2017 Spring

Review 8.  The role of telomere biology in bone marrow failure and other disorders.

Authors:  Sharon A Savage; Blanche P Alter
Journal:  Mech Ageing Dev       Date:  2007-11-19       Impact factor: 5.432

9.  Leukoencephalopathy, cerebral calcifications and cysts: a family study.

Authors:  Kinga Karlinger; Ádám Domonkos Tárnoki; Dávid László Tárnoki; Anne Polvi; Anna-Elina Lehesjoki; Andrea Kelemen; László Szegedi; Eszter Turányi; Anita Kamondi; Anna Szűcs
Journal:  J Neurol       Date:  2014-07-18       Impact factor: 4.849

10.  Dyskeratosis congenita.

Authors:  Sharon A Savage; Blanche P Alter
Journal:  Hematol Oncol Clin North Am       Date:  2009-04       Impact factor: 3.722

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