Document Detail

Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein.
MedLine Citation:
PMID:  7520583     Owner:  NLM     Status:  MEDLINE    
Simpson-Golabi-Behmel (SGB) syndrome is an X-linked condition with pre- and postnatal overgrowth, characteristic facies, and visceral and skeletal anomalies. We report an affected male who presented at 16 weeks' gestation with elevated maternal serum alpha-fetoprotein (MSAFP). Fetal measurements at 20 and 31 weeks' gestation were disproportionate, with marked macrosomia but a low head to abdominal circumference ratio and normal femur length. Fetal overgrowth with elevated MSAFP may prove to be useful markers for the prenatal diagnosis of SGB syndrome.
R M Hughes-Benzie; J L Tolmie; M McNay; A Patrick
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  14     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1994 Apr 
Date Detail:
Created Date:  1994-09-20     Completed Date:  1994-09-20     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  313-8     Citation Subset:  IM    
Division of Genetics, University of Ottawa, Canada.
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MeSH Terms
Abnormalities, Multiple / genetics*
Fetal Macrosomia / genetics*
Growth Disorders / genetics*
Linkage (Genetics)
X Chromosome
alpha-Fetoproteins / genetics,  metabolism*
Reg. No./Substance:

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