Simpson—Golabi—Behmel syndrome: Disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein |
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| Authors: | Dr R M Hughes-Benzie J L Tolmie M McNay A Patrick |
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| Institution: | 1. Duncan Guthrie Institute of Medical Genetics, Scotland, U.K.;2. Department of Obstetrics, Queen Mother's Maternity Hospital, Glasgow, Scotland, U.K.;3. Department of Pathology, Royal Hospital for Sick Children, Glasgow, Scotland, U.K. |
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| 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 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. |
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| Keywords: | Simpson—Golabi—Behmel syndrome alpha-fetoprotein overgrowth polyhydramnios X-linked inheritance fetus |
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