CLINICAL DIAGNOSIS OF SILVER-RUSSELL SYNDROME IN A PEDIATRIC PATIENT: A CASE REPORT

Abstract

Silver-Russell Syndrome (SRS) is a rare genetic disorder affecting approximately 1 in every 30,000 to 100,000 live births, with equal prevalence among both sexes. It is a rare congenital genetic condition characterized by intrauterine and/or postnatal growth restriction. The syndrome presents specific clinical features, including craniofacial abnormalities, body asymmetry involving the lower and/or upper limbs, low body mass index, poor weight gain, motor developmental delay, and impaired speech coordination, among other manifestations. article reports the case of a female patient presenting postnatal growth restriction, feeding difficulties during the first two months of life, characteristic physical features of the syndrome, and learning difficulties. At nine years of age, she was referred for evaluation of short stature compared to her two older sisters, as well as the fact that she had been wearing the same clothes and shoe size since the age of three, without evidence of appropriate growth and development. In 2015, the patient was evaluated by two pediatricians, a clinical geneticist, and finally a pediatric endocrinologist, who established the diagnosis of Silver-Russell Syndrome based on height measurements recorded in the Child Health Record Booklet, craniofacial, motor, and attention-related characteristics, laboratory findings, and the clinical manifestations observed since birth. Following diagnosis, treatment with recombinant human growth hormone (GH), the gold-standard therapy for this condition, was initiated, resulting in significant improvement in the patient's growth and overall development.