Reischer Theresa, Laccone Franco, Kasprian Gregor J, Yerlikaya-Schatten Gülen
Department of Obstetrics and Feto-maternal Medicine, Medical University of Vienna, 1090 Vienna, Austria.
Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.
Clin Pract. 2021 Feb 2;11(1):75-80. doi: 10.3390/clinpract11010012.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare x-linked overgrowth syndrome with distinct clinical features, which is difficult to diagnose prenatally. We report the diagnosis of SGBS in dichorionic-diamniotic twin pregnancies in the first trimester by ultrasound and genetic testing. The affected fetus developed polyhydramnios and the cervical length of the mother decreased significantly. To save the unaffected twin, a selective feticide of the affected fetus was performed. Finally, the patient underwent preterm caesarean section due to premature rupture of membranes in the dead twin, and also intrauterine infection. While SGBS has been reported, this was the first case in a multiple pregnancy, with possible consequences for the healthy twin. In conclusion, SGBS is a rare condition, which should be considered in the differential diagnosis of prenatal overgrowth syndromes and associated malformation.
辛普森-戈拉比-贝梅尔综合征（SGBS）是一种罕见的X连锁过度生长综合征，具有独特的临床特征，产前难以诊断。我们报告了通过超声和基因检测在孕早期对双绒毛膜双羊膜囊双胎妊娠中的SGBS进行诊断的病例。受影响的胎儿出现羊水过多，母亲的宫颈长度显著缩短。为挽救未受影响的双胎，对受影响的胎儿实施了选择性减胎术。最后，患者因死亡双胎胎膜早破以及宫内感染而接受了早产剖宫产。虽然已有SGBS的报道，但这是多胎妊娠中的首例，对健康双胎可能产生影响。总之，SGBS是一种罕见病症，在产前过度生长综合征及相关畸形的鉴别诊断中应予以考虑。
