Document Detail


A 26-month-old child with Marden-Walker syndrome and pyloric stenosis.
MedLine Citation:
PMID:  3591834     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We recently examined a 26-month-old boy with abnormal face, blepharophimosis, hypertelorism, apparently low-set ears, micrognathia, arachnodactyly, talipes equinovarus, and joint contractures. Subsequently he manifested failure to thrive, respiratory infections, and developmental delay. These congenital anomalies and associated findings are consistent with a diagnosis of the Marden-Walker syndrome. He also had mild pyloric stenosis and duodenal bands, not previously reported in this syndrome. This syndrome appears to be an autosomal recessive trait in some families. A summary of findings of the 16 previous published patients is presented.
Authors:
D Gossage; J M Perrin; M G Butler
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  26     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1987 Apr 
Date Detail:
Created Date:  1987-06-26     Completed Date:  1987-06-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  915-9     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / complications*,  physiopathology
Child, Preschool
Humans
Pyloric Stenosis / complications*,  physiopathology
Syndrome

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