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 [
1
,
2
]. SGBS is diagnosed based on clinical findings, family history, and genetic testing
for glypicans (GPC) 3 and 4 [
1
,
2
]. 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.To read this article in full you will need to make a payment
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References
- Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson–Golabi–Behmel syndrome, Sotos syndrome, and Beckwith–Wiedemann syndrome.Taiwan J Obstet Gynecol. 2012; 51: 186-191
- Golabi M. Leung A. Lopez C. Simpson–Golabi–Behmel Syndrome Type 1. GeneReviews™ [Internet]. University of Washington, Washington2006
- Postmortem MR imaging in the fetal and neonatal period.Magn Reson Imaging Clin N Am. 2012; 20: 129-143
- Post-mortem MRI versus conventional autopsy in fetuses and children: a prospective validation study.Lancet. 2013; 20: 223-233
- Simpson–Golabi–Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2–4 duplication of the GPC3 gene.Am J Med Genet A. 2013; 161: 1091-1095
Article info
Publication history
Published online: October 16, 2013
Received:
June 13,
2013
Identification
Copyright
© 2013 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
