| Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity. | |
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MedLine Citation:
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PMID: 20447141 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Stüve-Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition caused by mutations in the leukemia inhibitory receptor (LIFR) gene. The main characteristic features are bowing of the long bones, neonatal respiratory distress, swallowing/sucking difficulties and dysautonomia symptoms including temperature instability often leading to death in the first years of life. We report here four patients with SWS who have survived beyond 36 months of age with no LIFR mutation. These patients have been compared with six unreported SWS survivors carrying null LIFR mutations. We provide evidence of clinical homogeneity of the syndrome in spite of the genetic heterogeneity. |
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Authors:
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C Jung; N Dagoneau; G Baujat; M Le Merrer; A David; M Di Rocco; B Hamel; A Mégarbané; A Superti-Furga; S Unger; A Munnich; V Cormier-Daire |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 77 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-05-07 Completed Date: 2010-07-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 266-72 Citation Subset: IM |
Affiliation:
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Department of Genetics, Université Paris Descartes, Paris, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
physiopathology Female Follow-Up Studies Genes, Recessive Genetic Heterogeneity* Humans Leukemia Inhibitory Factor Receptor alpha Subunit / genetics Male Osteochondrodysplasias / genetics*, physiopathology Syndrome |
| Chemical | |
Reg. No./Substance:
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0/LIFR protein, human; 0/Leukemia Inhibitory Factor Receptor alpha Subunit |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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