Literature DB >> 1190257

The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult.

J M Friedman, H G Kaplan, J G Hall.   

Abstract

A 32 year old American Indian man with the Jeune syndrome (asphyxiating thoracic dystrophy), a condition previously reported only in children, is described. The patient exhibited a cardiomyopathy of unknown etiology and evidence of hepatic and renal disease in addition to characteristic osseous malformations of the thorax, pelvis and extremities. The identification of an established syndrome in this patient permits one to view the combination of abnormalities present in a more coherent manner.

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Year:  1975        PMID： 1190257     DOI： 10.1016/0002-9343(75)90472-6

Source DB:  PubMed          Journal:  Am J Med        ISSN： 0002-9343            Impact factor:   4.965


  5 in total

1.  Thoracic-pelvic dysostosis: a 'new' autosomal dominant form.

Authors:  A Bankier; D M Danks
Journal:  J Med Genet       Date:  1983-08       Impact factor: 6.318

2.  Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.

Authors:  M D Donaldson; A A Warner; R S Trompeter; G B Haycock; C Chantler
Journal:  Arch Dis Child       Date:  1985-05       Impact factor: 3.791

3.  Necropsy findings in neonatal asphyxiating thoracic dystrophy.

Authors:  S B Turkel; E J Diehl; J A Richmond
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

4.  An unusual case of hypercapnic respiratory failure.

Authors:  Nimeh Najjar; Martin Cerda; Jorge Trabanco; Vinoo Ramsaran; James Cury
Journal:  Respir Med Case Rep       Date:  2018-10-23

5.  Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.

Authors:  J de Vries; J L Yntema; C E van Die; N Crama; E A M Cornelissen; B C J Hamel
Journal:  Eur J Pediatr       Date:  2009-05-10       Impact factor: 3.183
  5 in total

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