Document Detail

The FG syndrome: 7 new cases.
MedLine Citation:
PMID:  4017279     Owner:  NLM     Status:  MEDLINE    
The X-linked FG syndrome is characterised by mental retardation, congenital hypotonia and constipation (which may both be severe), structural anal anomalies and relative macrocephaly in some, and an unusual and characteristic facial appearance. We describe 7 males from 4 families. One had anal stenosis. Two of the mothers and one sister show probable carrier manifestations. The features of the FG syndrome are individually non-specific. We emphasize that the characteristic combination of features is needed to avoid overdiagnosis.
E M Thompson; M Baraitser; R H Lindenbaum; Z H Zaidi; J S Kroll
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  27     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1985 Jun 
Date Detail:
Created Date:  1985-09-25     Completed Date:  1985-09-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  582-94     Citation Subset:  IM    
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MeSH Terms
Anus, Imperforate / genetics
Child, Preschool
Constipation / genetics*
Facial Expression
Linkage (Genetics)
Mental Retardation / genetics*
Muscle Hypotonia / congenital*,  genetics
X Chromosome*

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