Literature DB >> 3565476

New Marfanoid syndrome with craniosynostosis.

J Furlong, T W Kurczynski, J R Hennessy.   

Abstract

We report on a patient with various connective tissue abnormalities suggesting a distinctive disorder combining some features of the Marfan syndrome with craniosynostosis and other anomalies. A comparison is made with the Marfan syndrome and other phenotypically similar conditions.

Entities:  

Mesh：

Year:  1987        PMID： 3565476     DOI： 10.1002/ajmg.1320260314

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


  7 in total

Review 1.  Marfan's syndrome.

Authors:  Daniel P Judge; Harry C Dietz
Journal:  Lancet       Date:  2005-12-03       Impact factor: 79.321

Review 2.  Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Authors:  Takeshi Mizuguchi; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2006-10-24       Impact factor: 3.172

3.  Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.

Authors:  Scott A LeMaire; Hariyadarshi Pannu; Van Tran-Fadulu; Stacey A Carter; Joseph S Coselli; Dianna M Milewicz
Journal:  Nat Clin Pract Cardiovasc Med       Date:  2007-03

4.  Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Authors:  Chantal Stheneur; Gwenaëlle Collod-Béroud; Laurence Faivre; Jean François Buyck; Laurent Gouya; Jean-Marie Le Parc; Bertrand Moura; Christine Muti; Bernard Grandchamp; Gilles Sultan; Mireille Claustres; Philippe Aegerter; Bertrand Chevallier; Guillaume Jondeau; Catherine Boileau
Journal:  Eur J Hum Genet       Date:  2009-03-18       Impact factor: 4.246

5.  Lambdoidal synostosis in dizygotic twins with a family history of an undiagnosed connective tissue disorder.

Authors:  Caroline C Watson; Christoph J Griessenauer; R Shane Tubbs; James M Johnston
Journal:  Childs Nerv Syst       Date:  2013-11-06       Impact factor: 1.475

Review 6.  Causes and histopathology of ascending aortic disease in children and young adults.

Authors:  Deepali Jain; Harry C Dietz; Gretchen L Oswald; Joseph J Maleszewski; Marc K Halushka
Journal:  Cardiovasc Pathol       Date:  2011 Jan-Feb       Impact factor: 2.185

Review 7.  Marfan syndrome.

Authors:  Dianna M Milewicz; Alan C Braverman; Julie De Backer; Shaine A Morris; Catherine Boileau; Irene H Maumenee; Guillaume Jondeau; Arturo Evangelista; Reed E Pyeritz
Journal:  Nat Rev Dis Primers       Date:  2021-09-02       Impact factor: 65.038
  7 in total

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