Russell–Silver Syndrome – A Case Report from Iraq

Abstract

Russell–Silver syndrome (RSS) is an uncommon but clinically important genetic disorder defined by specific dysmorphic features such as relative macrocephaly at birth, body asymmetry, intrauterine growth restriction, and postnatal growth failure. RSS is diagnosed clinically when ≥4/6 Netchine–Harbison Clinical Scoring System criteria are met. Maternal uniparental disomy of chromosome 7 and lack of methylation of chromosome 11p15 are the most common causes of RSS. To maximize growth and developmental results, early detection and diagnosis of RSS are essential for starting appropriate therapies, such as growth hormone therapy. In this case report, we describe a 4 years and 3 months old girl from Iraq who presented with growth failure and distinct dysmorphic characteristics suggestive of RSS. We want to focus the light on the importance of clinical diagnosis for RSS (by history and physical examination) rather than depending solely on genetic testing, especially in countries where genetic diagnosis is restricted and of considerable cost.