Document Detail


Congenital nonprogressive myopathy with Möbius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report.
MedLine Citation:
PMID:  8362917     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Recently, we evaluated a 27-month-old boy with congenital generalized nonspecific myopathy, Möbius sequence, Robin sequence, and failure to thrive. We think the child has the same entity described by Carey, Fineman, and Ziter in 1982 [J Pediatr 101:353-364] and as such represents only the third example of this unusual syndrome. Review of the large number of conditions in which the Robin sequence occurs supports heterogeneity. Our case strengthens the Möbius-Robin association and further defines the Carey-Fineman-Ziter syndrome as a viable entity. It is most likely inherited as an autosomal recessive trait.
Authors:
R N Schimke; D L Collins; J M Hiebert
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  46     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1993 Jul 
Date Detail:
Created Date:  1993-09-30     Completed Date:  1993-09-30     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:  721-3     Citation Subset:  IM    
Affiliation:
Department of Medicine, University of Kansas Medical Center, Kansas City 66160-7318.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple
Child, Preschool
Humans
Male
Muscular Diseases / congenital*,  physiopathology
Syndrome

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