Document Detail


Limb deficiency and splenogonadal fusion.
MedLine Citation:
PMID:  7137224     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a 10-year-old boy with tetramelic limb deficiencies, splenogonadal fusion, and mild mandibular and oral abnormalities. This patient is quite typical of 14 reported cases with this combination of findings. This association must be nosologically closely related to the Hanhart syndrome and other syndromes of limb deficiency and orofacial abnormalities. Recent experience does not support the idea that limb reduction with splenogonadal fusion is an invariably lethal dominant disorder.
Authors:
R M Pauli; A Greenlaw
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  13     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1982 Sep 
Date Detail:
Created Date:  1982-12-16     Completed Date:  1982-12-16     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:  81-90     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / embryology*
Child
Choristoma / complications,  embryology*
Ectromelia / complications*
Extremities / embryology
Humans
Male
Micrognathism / complications
Spleen* / embryology
Testicular Neoplasms / complications,  embryology*
Testis / embryology
Tooth Abnormalities / complications

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


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