Document Detail


The Borjeson-Forssman-Lehmann syndrome. A family study.
MedLine Citation:
PMID:  3720009     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The propositus of this report presents a peculiar dysmorphic syndrome associated with severe mental retardation and epileptic attacks. Morphological stigmata include a round, fatty face with large, somewhat protruding tongue, large normally formed ears, relative microcephaly, abundant abdominal fat, dwarfism with hyperkyphosis and short neck. Analogous phenotypic abnormalities were present in the mother and a maternal cousin. The clinical and familial findings in this apparently rare mental retardation syndrome with apparently X-linked dominant or autosomal dominant inheritance with variable expression and penetrance are discussed.
Authors:
A M Dereymaeker; J P Fryns; M Hoefnagels; G Heremans; J Marien; H van den Berghe
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  29     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1986 Apr 
Date Detail:
Created Date:  1986-07-25     Completed Date:  1986-07-25     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  317-20     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child
Epilepsy / genetics*
Female
Genes, Dominant*
Humans
Linkage (Genetics)
Male
Mental Retardation / genetics*
Microcephaly / genetics*
Pedigree
Syndrome
X Chromosome

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


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