Hughes-Benzie R M, Tolmie J L, McNay M, Patrick A
Division of Genetics, University of Ottawa, Canada.
Prenat Diagn. 1994 Apr;14(4):313-8. doi: 10.1002/pd.1970140414.
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.
辛普森-戈拉比-贝梅尔（SGB）综合征是一种X连锁疾病，具有出生前和出生后的过度生长、特征性面容以及内脏和骨骼异常。我们报告了一名患病男性，其母亲在妊娠16周时母体血清甲胎蛋白（MSAFP）升高。妊娠20周和31周时的胎儿测量值不成比例，有明显的巨大儿，但头围与腹围比值低且股骨长度正常。MSAFP升高伴胎儿过度生长可能是SGB综合征产前诊断的有用标志物。
