Jeune's disease: Difference between revisions
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{{SK}} Asphyxiating thoracic dysplasia; Jeune's syndrome | |||
==Overview== | ==Overview== | ||
'''Jeune's disease''' is a familial asphyxiating thoracic dystrophy characterized by small thorax and short limb dwarfism, restricting the growth and expansion of the lungs often causing life threatening complications.<ref name="pmid19610081">{{cite journal |author=Tüysüz B, Bariş S, Aksoy F, Madazli R, Ungür S, Sever L |title=Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients |journal=Am. J. Med. Genet. A |volume=149A |issue=8 |pages=1727–33 |year=2009 |month=August |pmid=19610081 |doi=10.1002/ajmg.a.32962 |url=http://dx.doi.org/10.1002/ajmg.a.32962}}</ref> | '''Jeune's disease''' is a familial asphyxiating thoracic dystrophy characterized by small thorax and short limb dwarfism, restricting the growth and expansion of the lungs often causing life threatening complications.<ref name="pmid19610081">{{cite journal |author=Tüysüz B, Bariş S, Aksoy F, Madazli R, Ungür S, Sever L |title=Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients |journal=Am. J. Med. Genet. A |volume=149A |issue=8 |pages=1727–33 |year=2009 |month=August |pmid=19610081 |doi=10.1002/ajmg.a.32962 |url=http://dx.doi.org/10.1002/ajmg.a.32962}}</ref> | ||
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* [[Subglottic stenosis]] | * [[Subglottic stenosis]] | ||
* Pancreatic cysts | * Pancreatic cysts | ||
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==References== | ==References== | ||
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Latest revision as of 15:13, 3 August 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Synonyms and keywords: Asphyxiating thoracic dysplasia; Jeune's syndrome
Overview
Jeune's disease is a familial asphyxiating thoracic dystrophy characterized by small thorax and short limb dwarfism, restricting the growth and expansion of the lungs often causing life threatening complications.[1]
Pathophysiology
Jeune's disease is caused by mutation in IFT80 gene and inherited as an autosomal recessive disease in some families.
Symptoms
- Small thorax causing difficulty breathing
- Shortening of limbs
- Polydactyly
- Unusually shaped pelvic bones
Other features
- Chronic renal failure
- Retinal dystrophy leading to vision loss
- Heart defects
- Subglottic stenosis
- Pancreatic cysts
References
- ↑ Tüysüz B, Bariş S, Aksoy F, Madazli R, Ungür S, Sever L (2009). "Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients". Am. J. Med. Genet. A. 149A (8): 1727–33. doi:10.1002/ajmg.a.32962. PMID 19610081. Unknown parameter
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