Document Detail


An unusual dysplasia-malformation-cancer syndrome in two patients.
MedLine Citation:
PMID:  677167     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report two patients with a similar syndrome of gross malformation of a lower limb and contiguous structures due to involvement with dysplastic, teratomatous tissue. This dysplasia seems to have arisen in a paramedian position in the embryonic hindquarter at the time of lower limb-bud differentiation. Malignant degeneration at 5--7 months led to metastases and death in both cases around 1 year of age. The behavior of the dysplastic/oncoplastic tissue suggests a 2-"mutational" causal model. This is an apparently previously undescribed formal genesis syndrome.
Authors:
M V Durkin-Stamm; E F Gilbert; D J Ganick; J M Opitz
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  1     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1978  
Date Detail:
Created Date:  1978-09-15     Completed Date:  1978-09-15     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  279-89     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Female
Humans
Infant, Newborn
Leg / abnormalities*
Male
Mutation
Syndrome
Teratoma / complications,  genetics*

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