Literature DB >> 17047011

Fraser syndrome in a 96-year-old female.

Mario Impallomeni1, Deepak Subramanian, Nazim Mahmood, Joseph Illes, Illes Joseph.   

Abstract

Fraser syndrome is an autosomal recessive disorder in which the life expectancy is <1 year. The main features are cryptophthalmos, ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital system, lungs, liver and central nervous system (CNS). We report the clinical, laboratory and post-mortem findings of this condition in an elderly woman aged 96 years. She is the oldest known patient with Fraser syndrome.

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Year:  2006        PMID: 17047011     DOI: 10.1093/ageing/afl109

Source DB:  PubMed          Journal:  Age Ageing        ISSN: 0002-0729            Impact factor:   10.668


  4 in total

1.  Case report: hypodontia and short roots in a child with Fraser syndrome.

Authors:  E J Keene; P F Day
Journal:  Eur Arch Paediatr Dent       Date:  2011-08

2.  Expression of Fraser syndrome genes in normal and polycystic murine kidneys.

Authors:  Larissa Kerecuk; David A Long; Zahabia Ali; Corina Anders; Maria Kolatsi-Joannou; Peter J Scambler; Adrian S Woolf
Journal:  Pediatr Nephrol       Date:  2011-10-13       Impact factor: 3.714

3.  Fraser syndrome-oral manifestations and a dental care protocol.

Authors:  Talita Lopes de Oliveira; Giselle Rodrigues de Sant'Anna
Journal:  Case Rep Dent       Date:  2014-12-21

4.  Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.

Authors:  Jolanta E Pitera; Peter J Scambler; Adrian S Woolf
Journal:  Hum Mol Genet       Date:  2008-09-11       Impact factor: 6.150

  4 in total

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