SIMPSON-GOLABI-BEHMEL SYNDROME - DISPROPORTIONATE FETAL OVERGROWTH AND ELEVATED MATERNAL SERUM - ALPHA-FETOPROTEIN

Simpson-Golabi-Behmel (SGB) syndrome is an X-linked condition with pre - and postnatal overgrowth, characteristic facies, and visceral and sk eletal anomalies. We report an affected male who presented at 16 weeks ' gestation with elevated maternal serum a-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 t o be useful markers for the prenatal diagnosis of SGB syndrome.