Document Detail


Nager acrofacial dysostosis: evidence for apparent heterogeneity.
MedLine Citation:
PMID:  3189396     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Nager acrofacial dysostosis is characterized by malar, mandibular, and maxillary hypoplasia, macrostomia, abnormal ears, and radial defects. The lower limbs are usually normal. Two patients were reported with many of these manifestations, in addition to severe facial clefts and limb deficiency. These more severely affected patients were thought to have a severe form of Nager acrofacial dysostosis or a new syndrome. We report on a patient with limb findings of intermediate severity. This patient also had hydrocephalus, micropolygyria, and tetralogy of Fallot. This may indicate apparent heterogeneity or a single condition with widely variable expression.
Authors:
D J Goldstein; L D Mirkin
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  30     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1988 Jul 
Date Detail:
Created Date:  1988-12-07     Completed Date:  1988-12-07     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:  741-6     Citation Subset:  IM    
Affiliation:
Lilly Research Laboratories, Eli Lilly and Co., Indianapolis, Indiana 46285.
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MeSH Terms
Descriptor/Qualifier:
Craniofacial Dysostosis / genetics,  pathology*
Humans
Infant, Newborn
Phenotype
Syndrome

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


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