Literature DB >> 8414764

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

F Ziereisen1, C De Munter, N Perlmutter.   

Abstract

A 2-month-old boy presented with cartilage calcification, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, short stature and slight psychomotor delay. This case is similar to the two cases described by Keutel in 1972. Since then, four other cases have been reported; we report the seventh case and discuss the clinical findings and the incidence of the disease.

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Year:  1993        PMID: 8414764     DOI: 10.1007/bf02010925

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  5 in total

1.  Keutel syndrome: clinical report and literature review.

Authors:  E J Cormode; M Dawson; R B Lowry
Journal:  Am J Med Genet       Date:  1986-06

2.  Unusual calcium deposition in cartilage associated with short stature and peculiar facial features: a case report.

Authors:  B Say; S Balci; T Pirnar; R Israel; M Atasu
Journal:  Pediatr Radiol       Date:  1973-07

3.  Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome.

Authors:  J P Fryns; A van Fleteren; P Mattelaer; H van den Berghe
Journal:  Eur J Pediatr       Date:  1984-08       Impact factor: 3.183

4.  Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form.

Authors:  P Maroteaux
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

5.  Severe pulmonary arterial stenoses in Conradi-Hünermann disease.

Authors:  E Trowitzsch; R Richter; W Eisenberg; H C Kallfelz
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

  5 in total
  4 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.  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 3.  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

4.  Mechanisms of arterial remodeling: lessons from genetic diseases.

Authors:  Bernard J van Varik; Roger J M W Rennenberg; Chris P Reutelingsperger; Abraham A Kroon; Peter W de Leeuw; Leon J Schurgers
Journal:  Front Genet       Date:  2012-12-13       Impact factor: 4.599

  4 in total

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