Document Detail


A rare cause of short stature: Leri Weill dyschondrosteosis.
MedLine Citation:
PMID:  12872816     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Short stature is a common pediatric problem. It may occur rarely as a result of genetic disorders. Leri-Weill dyschondrosteosis (LWD) is one of the rare genetic disorders of skeletal system resulting with short stature. It is characterized by shortness of stature and Madelung deformity of the wrist. Here we report a case of LWD with some skeletal stigmas of Turner syndrome. She has also depressed medial tibial condyles that to our knowledge, has not previously been reported in LWD.
Authors:
M Cakir; M Kalyoncu; E Odemiş; A Okten
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  14     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2003  
Date Detail:
Created Date:  2003-07-22     Completed Date:  2003-11-04     Revised Date:  2006-07-06    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  215-20     Citation Subset:  IM    
Affiliation:
Department or Pediatrics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey. muratcak@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Body Height*
Bone Diseases / diagnosis*,  genetics*
Carpal Bones / abnormalities
Child
Diagnosis, Differential
Female
Growth Disorders / diagnosis*,  genetics*
Humans
Karyotyping
Metacarpus / abnormalities
Radius / abnormalities
Syndrome
Tibia / abnormalities
Ulna / abnormalities

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


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