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Simpson—Golabi—Behmel syndrome: Disproportionate fetal overgrowth and elevated maternal serum alpha‐fetoprotein
Author(s) -
HughesBenzie R. M.,
Tolmie J. L.,
McNay M.,
Patrick A.
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970140414
Subject(s) - gestation , fetus , medicine , prenatal diagnosis , endocrinology , pregnancy , obstetrics , biology , genetics
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 α‐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.