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Case Reports
. 2017 Mar 17;5(5):608-612.
doi: 10.1002/ccr3.902. eCollection 2017 May.

First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray

Heidi Kristine Støve  1 , Naja Becher  1 , Vibike Gjørup  2 , Mette Ramsing  1   3 , Ida Vogel  1 , Else Marie Vestergaard  1
Affiliations
Case Reports

First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray

Heidi Kristine Støve et al. Clin Case Rep. .

Abstract

Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked syndrome. Female carriers may have mild manifestations. Macrosomia, polyhydramnios, and kidney and urinary tract anomalies are common findings in male fetuses. We present the first case of a severely affected female fetus with stigmata of SGBS and a deletion involving the GPC3 gene.

Keywords: Chromosomal microarray; Simpson–Golabi–Behmel syndrome; X‐linked; prenatal diagnosis.

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Figures

Figure 1
Figure 1
Prenatal appearance at 13 and 15 weeks gestation. (A) Ultrasound image showing the fetus with joint contractures of the upper limbs. (B) Abortus (15 weeks and 2 days) with severe hypoplasia of skeletal muscles, joint contractures, and craniofacial dysmorphism. (C) Radiograph of the fetus at 15 weeks and 2 days gestation.
See this image and copyright information in PMC

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