Document Detail


Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case.
MedLine Citation:
PMID:  6881198     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Acrofacial dysostosis is noted in a stillborn female with mandibulofacial abnormality without cleft palate and with bilateral radial hemimelia, duplication of the left great toe, and aplasia of the right kidney. Synopsis of the published cases shows that the various degrees of mandibulofacial dysostosis frequently characterized by cleft palate and atresia of the auditory meatus are not closely correlated with the malformation of the upper limb. Formal genetics are unknown.
Authors:
R A Pfeiffer; H Stoess
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  15     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1983 Jun 
Date Detail:
Created Date:  1983-09-09     Completed Date:  1983-09-09     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:  255-60     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Cleft Palate
Diagnosis, Differential
Female
Humans
Infant, Newborn
Kidney / abnormalities
Mandibulofacial Dysostosis / classification,  genetics*
Radius / abnormalities*
Syndrome

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


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