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

16 Oct 2013

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 . SGBS is diagnosed based on clinical findings, family history, and genetic testing for glypicans (GPC) 3 and 4 . 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.

16 October 2013

Click here to view the full article which appeared in European Journal of Obstetrics & Gynecology and Reproductive Biology