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LETTER TO THE EDITOR—BRIEF COMMUNICATION| Volume 171, ISSUE 2, P388-389, December 2013

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Simpson–Golabi–Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report

Published:October 16, 2013DOI:https://doi.org/10.1016/j.ejogrb.2013.09.044
      Simpson–Golabi–Behmel syndrome (SGBS) is an X-linked disorder characterized by an overgrowth syndrome that includes coarse face, congenital heart defects, congenital diaphragmatic hernia (CDH), genitourinary defects, gastrointestinal anomalies, and vertebral/rib anomalies [
      • Chen C.P.
      Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson–Golabi–Behmel syndrome, Sotos syndrome, and Beckwith–Wiedemann syndrome.
      ,
      ]. SGBS is diagnosed based on clinical findings, family history, and genetic testing for glypicans (GPC) 3 and 4 [
      • Chen C.P.
      Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson–Golabi–Behmel syndrome, Sotos syndrome, and Beckwith–Wiedemann syndrome.
      ,
      ]. Clinical findings should be used to diagnose SGBS when genetic testing is not possible. We describe a case of SGBS terminated at 20 weeks’ gestation that was clinically diagnosed by postmortem magnetic resonance imaging (MRI) and autopsy and subsequently confirmed by genetic analysis.
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