Document Detail


Symbrachydactyly in Turner's syndrome.
MedLine Citation:
PMID:  8588854     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In the report we describe the occurrence of symbrachydactyly of the right hand in an adult female with Turner syndrome and classical 45,X karyotype. Symbrachydactyly is a unilateral and sporadic hand malformation. The pathogenesis may be part of an arterial vascular disruption sequence, possibly secondary to fetal oedema which is an important and frequent symptom in the prenatal development of Turner syndrome foetusses.
Authors:
L De Smet; J P Fryns
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  6     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  1995  
Date Detail:
Created Date:  1996-03-25     Completed Date:  1996-03-25     Revised Date:  2006-07-06    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  247-9     Citation Subset:  IM    
Affiliation:
Orthopaedic Department, University Hospital Pellenberg, University of Leuven, Belgium.
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MeSH Terms
Descriptor/Qualifier:
Adult
Diagnosis, Differential
Female
Fingers / abnormalities
Hand Deformities, Congenital / diagnosis,  genetics*
Humans
Karyotyping
Turner Syndrome / diagnosis,  genetics*

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