Russell–Silver Syndrome Presenting as Early Asymmetric IUGR

Authors: Khalil, Haroona; Edwards, Hazel; Preston, Jane

Source: Ultrasound, Volume 16, Number 2, May 2008 , pp. 87-90(4)

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Abstract:

We report a case of severe intrauterine growth restriction (IUGR) which was diagnosed as Russell–Silver syndrome (RSS) postnatally. RSS (also known as Silver–Russell syndrome) is one of more than 300 recognised forms of genetic disorder that leads to short stature. Uniparental disomy for chromosome 7 (UPD7), i.e. inheriting two copies of chromosome 7 from the mother, and a change in methylation pattern (biochemical silencing of gene expression) of chromosome 11 are the most frequently associated chromosomal defects. A wide spectrum of appearances and symptoms are associated with the condition. Most characteristics are not easily identifiable with prenatal diagnostic ultrasound. The symptom most likely to be detected sonographically is IUGR. This case seeks to raise awareness of RSS, and encourages clinicians to consider uncommon genetic disorders such as RSS as a possible cause of early asymmetric IUGR.

Keywords: SHORT STATURE; DYSMORPHIA; ULTRASOUND; VSD; ABDOMINAL CIRCUMFERENCE

Document Type: Case Report

DOI: http://dx.doi.org/10.1179/174313408X294563

Publication date: 2008-05-01

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