Document Detail


Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly.
MedLine Citation:
PMID:  12416639     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We present a case of a female newborn with a combination of congenital diaphragmatic hernia, skeletal defects, craniofacial dysmorphism, dextrocardia and persistent ductus arteriosus, and normal female karyotype. History of family and pregnancy-labour were non-contributory. The findings in the present patient are most compatible with the diagnosis of a spondylothoracic dysostosis with a set of uncommon anomalies.
Authors:
J Swietliński; K Swist-Szulik; I Maruniak-Chudek; A Pyrkosz
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  13     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2002  
Date Detail:
Created Date:  2002-11-05     Completed Date:  2003-02-12     Revised Date:  2006-07-06    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  309-17     Citation Subset:  IM    
Affiliation:
Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Austria. kitipn.sk6@interia.pl
Data Bank Information
Bank Name/Acc. No.:
OMIM/277300
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / pathology*,  radiography,  surgery
Dysostoses / pathology*,  radiography,  surgery
Female
Hand Deformities, Congenital / pathology*,  surgery
Hernia, Diaphragmatic / pathology*,  surgery
Humans
Infant, Newborn
Lumbar Vertebrae / abnormalities*
Magnetic Resonance Imaging
Thoracic Vertebrae / abnormalities*

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


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