Document Detail


Klippel-Feil syndrome with osteopoikilosis in a young lady and her four female relatives with osteopoikilosis.
MedLine Citation:
PMID:  19057846     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Osteopoikilosis is a rare, usually asymptomatic, autosomal dominant bone disorder, which is usually found incidentally on X-ray. Klippel-Feil syndrome is a rare disorder characterized by the congenital fusion of any two of the seven cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. In this case report, we describe a woman with osteopoikilosis associated with type 2 Klippel-Feil syndrome. Additionally, four female members of her family had osteopoikilosis. We state that possible syndromes that can go with osteopoikilosis must be kept in mind in case of an incidental diagnosis in daily practice.
Authors:
Serdar Toker; Volkan Kilincoglu; Koray Unay; Erden Erturer; Figen Taser; Erim Gulcan; Demet Ilhan
Related Documents :
2715696 - Wildervanck's syndrome--unilateral mondini dysplasia identified by computed tomography.
17712266 - The human pyramidal syndrome redux.
16035646 - Sturge weber syndrome.
12554906 - Mediastinal cavernous haemangioma in a patient with klippel-trenaunay syndrome.
2289316 - Craniofrontonasal dysostosis: variable expression in a three-generation family.
8986276 - Another arab patient with overlap of váradi-papp/opitz trigonocephaly syndromes?
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-12-05
Journal Detail:
Title:  Clinical rheumatology     Volume:  28     ISSN:  1434-9949     ISO Abbreviation:  Clin. Rheumatol.     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2008-12-23     Completed Date:  2009-04-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8211469     Medline TA:  Clin Rheumatol     Country:  Belgium    
Other Details:
Languages:  eng     Pagination:  235-8     Citation Subset:  IM    
Affiliation:
Medical Faculty Department of Orthopaedics and Traumatology, Dumlupinar University, Kutahya, Turkey. tokerserdar@hotmail.com
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
Cervical Vertebrae / radiography
Female
Genetic Predisposition to Disease
Humans
Incidental Findings
Klippel-Feil Syndrome / diagnosis*,  genetics*
Middle Aged
Osteopoikilosis / diagnosis*,  genetics*
Pedigree*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Risk factors for cardiovascular disease and endothelin-1 levels in Takayasu arteritis patients.
Next Document:  Seroprevalence of parvovirus B19 in fibromyalgia syndrome.