title: Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein.
abstract: 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.
authors.affiliation: Division of Genetics, University of Ottawa, Canada.
authors.forename: R M
authors.initials: RM
authors.lastname: Hughes-Benzie
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
authors.forename: M
authors.initials: M
authors.lastname: McNay
authors.forename: A
authors.initials: A
authors.lastname: Patrick
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000886:Anthropometry; D005260:Female; D005320:Fetal Macrosomia / Q000235:genetics*; D008040:Genetic Linkage; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D011247:Pregnancy; D013577:Syndrome; D014960:X Chromosome; D000509:alpha-Fetoproteins / Q000235:genetics / Q000378:metabolism*
chemical_list: D000509:alpha-Fetoproteins