Clinical Diagnosis of Silver-Russel Syndrome Using Netchine-Harbison Criteria in a Resource-limited Setting

Abstract

Silver-Russell Syndrome (SRS) is a rare genetic congenital growth disorder characterized by intrauterine growth restriction, postnatal growth failure, hemihypertrophy, and craniofacial dysmorphism. Recognized by the Genetic and Rare Diseases Information Center, the syndrome presents considerable diagnostic challenges in resource-limited settings where genetic testing is often inaccessible. This case report presents a 4-month-old female infant with marked asymmetry in limb growth, particularly hemihypertrophy on the left side of the body and notable facial dysmorphism. A clinical diagnosis of Silver-Russell Syndrome was established based on detailed clinical evaluation and the Netchine-Harbison Clinical Scoring System (NH-CSS). All six diagnostic criteria were fulfilled, including the two mandatory ones – small for gestational age status (SGA) and postnatal growth failure. Multidisciplinary care, involving pediatricians, geneticists, endocrinologists, and nutritionists, was recommended to ensure optimal growth and development. This case highlights the importance of clinical tools like NH-CSS and the value of early diagnosis in managing SRS.