Am J Med. 1975 Dec;59(6):857-62.

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

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.

PMID:: 1190257; [PubMed - indexed for MEDLINE]

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[Jeune syndrome (thoraco-pelvo-phalangeal dystrophy, asphyxiating thoracic dystrophy)]. [Orv Hetil. 1980]
[Jeune syndrome (thoraco-pelvo-phalangeal dystrophy, asphyxiating thoracic dystrophy)].
Szabó L, Takács I. Orv Hetil. 1980 Nov 2; 121(44):2699-704.
Review Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). [Semin Liver Dis. 2003]
Review Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy).
Yerian LM, Brady L, Hart J. Semin Liver Dis. 2003 May; 23(2):195-200.
[Jeune syndrome (asphyxiating thoracic dystrophy): a case report]. [Tuberk Toraks. 2009]
[Jeune syndrome (asphyxiating thoracic dystrophy): a case report].
Uçar S, Zorlu P, Sahin G, Yildirim M, Uşak E. Tuberk Toraks. 2009; 57(4):413-6.
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. [Nat Genet. 2007]
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, et al. Nat Genet. 2007 Jun; 39(6):727-9. Epub 2007 Apr 29.
Review Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). [Am J Med Genet A. 2011]
Review Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Am J Med Genet A. 2011 May; 155A(5):1021-32. Epub 2011 Apr 4.

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Cited by 4 PubMed Central articles

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. [Eur J Pediatr. 2010]
Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.
de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC. Eur J Pediatr. 2010 Jan; 169(1):77-88. Epub 2009 May 10.
Thoracic-pelvic dysostosis: a 'new' autosomal dominant form. [J Med Genet. 1983]
Thoracic-pelvic dysostosis: a 'new' autosomal dominant form.
Bankier A, Danks DM. J Med Genet. 1983 Aug; 20(4):276-9.
Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders. [Arch Dis Child. 1985]
Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.
Donaldson MD, Warner AA, Trompeter RS, Haycock GB, Chantler C. Arch Dis Child. 1985 May; 60(5):426-34.

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