Jeune syndrome
1 It is a rare genetic disorder, with a poor survival rate beyond the neonatal period, 2 known to be genetically heterogeneous and characterised by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage, which often results in asphyxiation. 1 Survival has been reported to the fourt...
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| Veröffentlicht in: | Postgraduate medical journal 2008-10, Vol.84 (996), p.559-559 |
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| container_title | Postgraduate medical journal |
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| creator | O’Connor, M B Gallagher, D P Mulloy, E |
| description | 1 It is a rare genetic disorder, with a poor survival rate beyond the neonatal period, 2 known to be genetically heterogeneous and characterised by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage, which often results in asphyxiation. 1 Survival has been reported to the fourth decade of life, 3 with no race or sex predilection. Some success has been seen by expanding the thorax through a longitudinal division of the sternum held open with bone graft, acrylic implants, metal plates or donor bone grafts. |
| doi_str_mv | 10.1136/pgmj.2007.066159 |
| format | Article |
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Gallagher, D P ; Mulloy, E</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b399t-90a6f85c0bc97b070af94db30427fa9629a27fd18b8a9b367f8d33c1f1b6b23f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Asphyxia - etiology</topic><topic>Asphyxia - therapy</topic><topic>asphyxiating thoracic dystrophy</topic><topic>autosomal recessive</topic><topic>Child development</topic><topic>childhood</topic><topic>Chromosomes, Human, Pair 15 - genetics</topic><topic>genetic disorder</topic><topic>Humans</topic><topic>Hypoventilation - etiology</topic><topic>Hypoventilation - therapy</topic><topic>Musculoskeletal Abnormalities - genetics</topic><topic>Musculoskeletal Abnormalities - therapy</topic><topic>survival</topic><topic>Syndrome</topic><topic>Thorax - abnormalities</topic><topic>Transplants & implants</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>O’Connor, M B</creatorcontrib><creatorcontrib>Gallagher, D P</creatorcontrib><creatorcontrib>Mulloy, E</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Postgraduate medical journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>O’Connor, M B</au><au>Gallagher, D P</au><au>Mulloy, E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Jeune syndrome</atitle><jtitle>Postgraduate medical journal</jtitle><addtitle>Postgrad Med J</addtitle><date>2008-10</date><risdate>2008</risdate><volume>84</volume><issue>996</issue><spage>559</spage><epage>559</epage><pages>559-559</pages><issn>0032-5473</issn><eissn>1469-0756</eissn><abstract>1 It is a rare genetic disorder, with a poor survival rate beyond the neonatal period, 2 known to be genetically heterogeneous and characterised by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage, which often results in asphyxiation. 1 Survival has been reported to the fourth decade of life, 3 with no race or sex predilection. 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| fulltext | fulltext |
| identifier | ISSN: 0032-5473 |
| ispartof | Postgraduate medical journal, 2008-10, Vol.84 (996), p.559-559 |
| issn | 0032-5473 1469-0756 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_69805703 |
| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; BMJ Journals - NESLi2 |
| subjects | Asphyxia - etiology Asphyxia - therapy asphyxiating thoracic dystrophy autosomal recessive Child development childhood Chromosomes, Human, Pair 15 - genetics genetic disorder Humans Hypoventilation - etiology Hypoventilation - therapy Musculoskeletal Abnormalities - genetics Musculoskeletal Abnormalities - therapy survival Syndrome Thorax - abnormalities Transplants & implants |
| title | Jeune syndrome |
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