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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.

Date: 
16 October 2013

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