Document Detail


Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs.
MedLine Citation:
PMID:  8209908     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Six familial cases of the Beemer-Langer syndrome (BLS) were analyzed to further elucidate the spectrum and frequency of anomalies observed in this disorder. Preaxial polydactyly was found in 3/6 affected sibs, and, therefore, its frequency previously may have been underestimated. Some patients, described as infants affected with the Majewski syndrome (MS) or "atypical" short rib-polydactyly conditions, may indeed have BLS. A high frequency of brain defects (16/26) and cleft tongue, oral frenula, and/or natal teeth (13/29) widens the list of typical findings in this syndrome. The specific type of tibial defect seems to be the most important discrimination of the MS and the BLS.
Authors:
I W Lurie
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  50     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1994 May 
Date Detail:
Created Date:  1994-07-12     Completed Date:  1994-07-12     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  313-7     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Maryland at Baltimore, School of Medicine.
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MeSH Terms
Descriptor/Qualifier:
Brain / abnormalities
Family Health
Genes, Recessive
Humans
Phenotype
Short Rib-Polydactyly Syndrome / genetics*

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