Abstract
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.
Highlights
Simpson-Golabi-Behmel syndrome (SGBS) is characterized by massive pre- and postnatal overgrowth, a disproportionately large head, variable congenital malformations such as hyperteleorisim, renal abnormalities, cardiac, gastrointestinal and genitourinary malformations, as well as embryonal tumours and increased mild to moderate intellectual shortfall [3,4]
Due to the massive polyhydramnios and cervix insufficiency the patient was admitted to the hospital firstly for lung maturation with corticosteroid and secondly selective feticide at 25 + 0 weeks of gestation
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome is difficult as the sonographic findings appear mostly after the second trimester and usually are not very specific for SGBS
Summary
These are a heterogeneous group of disorders characterized by enormous growth of the affected individual. The Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked recessive disorder. It was first described by Simpson in 1975 [1]. With the advances in prenatal diagnosis within the last years, diagnosis of SGBS has been described but only in single cases This is because prenatal features of SGBS type 1 can vary widely in affected individuals. In spite of known ultrasound features the prenatal detection rate is low This case report describes the diagnosis of SGBS in a twin pregnancy with fetal abnormalities detectable by ultrasound as early as 12 weeks of pregnancy
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