| Stüve-Wiedemann Syndrome and Related Bent Bone Dysplasias. | |
| | |
MedLine Citation:
|
PMID: 22300393 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
Stüve-Wiedemann syndrome (SWS) is a severe congenital skeletal dysplasia associated with life threatening dysautonomic manifestations. Newborns affected with this condition exhibit distinctive shortening and bowing of the long bones with reduced bone volume. The majority of affected newborns die early due to neuromuscular complications namely hyperthermia, apnea, and swallowing difficulties. In this review we provide an overall picture on the clinical, including long term management, molecular and cellular aspects of SWS and discuss briefly other related bent bone dysplasias. |
| | |
Authors:
|
Nadia A Akawi; Bassam R Ali; Lihadh Al-Gazali |
Related Documents
:
|
18766793 - A cardiomyopathy ("sudden death syndrome") of adult hens. 20412493 - Unusual cardiac phenotype in a newborn with noonan syndrome. 22498133 - Coexistence of renal malakoplakia and myelodysplastic syndrome. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2012-2-2 |
Journal Detail:
|
Title: Clinical genetics Volume: - ISSN: 1399-0004 ISO Abbreviation: - Publication Date: 2012 Feb |
Date Detail:
|
Created Date: 2012-2-3 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
© 2012 John Wiley & Sons A/S. |
Affiliation:
|
Department of Pathology Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Characterization and evaluation of ?-glucan formulations as injectable implants for protein and pept...
Next Document: Pharmacokinetics of verapamil and its metabolite norverapamil in rats with hyperlipidaemia induced b...