Literature DB >> 11992766

Intracranial calcification, retinopathy, and osteopenia: a new syndrome?

Mona Sazgar1, Norma J Leonard, Deborah L Renaud, Ravi Bhargava, D Barry Sinclair.   

Abstract

We describe two brothers with bilateral exudative retinopathy, intracranial calcifications, a sclerotic bony disorder, and normal intelligence. The younger brother also has osteopenia, mild splenomegaly, and pancytopenia. We review the literature with emphasis on the unique features of these patients.

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Year:  2002        PMID： 11992766     DOI： 10.1016/s0887-8994(01)00398-8

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  3 in total

1.  Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Authors:  Anne Polvi; Tarja Linnankivi; Tero Kivelä; Riitta Herva; James P Keating; Outi Mäkitie; Davide Pareyson; Leena Vainionpää; Jenni Lahtinen; Iiris Hovatta; Helena Pihko; Anna-Elina Lehesjoki
Journal:  Am J Hum Genet       Date:  2012-03-01       Impact factor: 11.025

2.  Mutations in the telomere capping complex in bone marrow failure and related syndromes.

Authors:  Amanda J Walne; Tanya Bhagat; Michael Kirwan; Cyril Gitiaux; Isabelle Desguerre; Norma Leonard; Elena Nogales; Tom Vulliamy; Inderjeet S Dokal
Journal:  Haematologica       Date:  2012-08-16       Impact factor: 9.941

Review 3.  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
  3 in total

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