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

Eur J Obstet Gynecol Reprod Biol. 2013 Dec;171(2):388-9. doi: 10.1016/j.ejogrb.2013.09.044. Epub 2013 Oct 10.

Authors

Daigo Ochiai¹, Hirofumi Ohashi, Hiromi Hisazumi-Watanabe, Yoshiomi Sato, Kazumi Yakubo, Tatsuro Fukuiya

Affiliation

¹ Department of Obstetrics & Gynecology, Saitama City Hospital, 2460 Mimuro, Midori-ku, Saitama-shi, Saitama 336-8522, Japan. Electronic address: [email protected].

PMID: 24169032
DOI: 10.1016/j.ejogrb.2013.09.044

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Abortion, Induced
Arrhythmias, Cardiac / diagnosis*
Arrhythmias, Cardiac / genetics
Autopsy
Comparative Genomic Hybridization
Female
Gene Duplication
Genetic Diseases, X-Linked / diagnosis*
Genetic Diseases, X-Linked / genetics
Gigantism / diagnosis*
Gigantism / genetics
Glypicans / genetics
Heart Defects, Congenital / diagnosis*
Heart Defects, Congenital / genetics
Humans
Intellectual Disability / diagnosis*
Intellectual Disability / genetics
Magnetic Resonance Imaging
Male
Pregnancy

Substances

GPC3 protein, human
Glypicans

Supplementary concepts

Simpson-Golabi-Behmel syndrome