Literature DB >> 3717211

Keutel syndrome: clinical report and literature review.

E J Cormode, M Dawson, R B Lowry.   

Abstract

In 1972 Keutel et al described a brother and sister with brachytelephalangism, hearing loss, peripheral pulmonary stenosis and abnormal cartilage calcification. Since then, three additional cases have been reported. We report a sixth case and discuss the clinical findings and cause.

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Mesh：

Year:  1986        PMID： 3717211     DOI： 10.1002/ajmg.1320240209

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


  8 in total

1.  Petrified ears in a patient with Keutel syndrome: temporal bone CT findings.

Authors:  Hemant Parmar; Susan Blaser; Sheila Unger; Shi-Joon Yoo; Blake Papsin
Journal:  Pediatr Radiol       Date:  2005-11-18

2.  Keutel syndrome: a report of four cases.

Authors:  H E Khosroshahi; O Uluoğlu; R Olguntürk; C Başaklar
Journal:  Eur J Pediatr       Date:  1989-12       Impact factor: 3.183

Review 3.  Pulmonic Valve Disease: Review of Pathology and Current Treatment Options.

Authors:  Mouhammad Fathallah; Richard A Krasuski
Journal:  Curr Cardiol Rep       Date:  2017-09-16       Impact factor: 2.931

4.  A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient.

Authors:  Eduardo Perrone; Kelin Chen; Marco Ramos; Maria Fernanda Milanezi; Viviane Nakano; Ariane Falconi; Juliana Silva; Jamille Campos; Celia M C Silva; Joao B O Filho; Ana B A Perez
Journal:  Mol Syndromol       Date:  2018-04-25

Review 5.  Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome.

Authors:  Stephen F Miller
Journal:  Pediatr Radiol       Date:  2002-12-19

Review 6.  The Keutel syndrome. Report of a case and review of the literature.

Authors:  F Ziereisen; C De Munter; N Perlmutter
Journal:  Pediatr Radiol       Date:  1993

Review 7.  From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders.

Authors:  Eva Yg De Vilder; Olivier M Vanakker
Journal:  World J Clin Cases       Date:  2015-07-16       Impact factor: 1.337

8.  Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation.

Authors:  Caitlin O'Rourke; Georgia Shelton; Joshua D Hutcheson; Megan F Burke; Trejeeve Martyn; Timothy E Thayer; Hannah R Shakartzi; Mary D Buswell; Robert E Tainsh; Binglan Yu; Aranya Bagchi; David K Rhee; Connie Wu; Matthias Derwall; Emmanuel S Buys; Paul B Yu; Kenneth D Bloch; Elena Aikawa; Donald B Bloch; Rajeev Malhotra
Journal:  J Vis Exp       Date:  2016-05-31       Impact factor: 1.355
  8 in total

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