SILVER–RUSSELL SYNDROME AS A CAUSE OF DELAYED PHYSICAL DEVELOPMENT

Abstract

Silver–Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine growth restriction, postnatal growth retardation, facial dysmorphism, and other developmental abnormalities. Its main phenotypic features include relative macrocephaly at birth, short stature, a triangular face, micrognathia with a narrow chin, a prominent forehead, body asymmetry, and fifth-finger clinodactyly. SRS is genetically heterogeneous; according to international studies, molecular genetic testing confirms the diagnosis in approximately 60% of patients. This article presents a clinical case of SRS in a girl aged 1 year and 10 months who was hospitalized because of inadequate weight and height gain, decreased appetite, and jaundice. A comprehensive clinical, laboratory, and instrumental assessment was performed, and the child was examined by specialists in genetics, endocrinology, and dietetics. The examination led to a diagnosis of SRS, and recommendations for further management were provided. Conclusion: the primary challenge in this case was the differential diagnosis between primary, genetically determined causes and secondary, nutritional or chronic disease-related causes, particularly gastrointestinal disorders, of delayed physical development. This clinical case highlights the importance of a multidisciplinary approach in the management of children with growth and weight retardation.