Silver–Russell syndrome: a literature review

Slow growth and growth retardation compared to age norms are a common reason for seeking specialized medical care from a pediatrician and pediatric endocrinologist. Anthropometric monitoring, including dynamic assessment of height and weight parameters, is the most important component of clinical examination in pediatrics, since it serves as an integral marker of somatic health and physical development of the child. The etiology of short stature is characterized by significant polymorphism, which necessitates a two-stage diagnostic algorithm: verification of the growth retardation itself and subsequent determination of its pathogenetic mechanisms. This condition can manifest itself in a wide range of pathological conditions, including somatotropic insufficiency. The list of nosologies associated with short stature includes: chromosomal abnormalities and genetic syndromes (Turner, Prader–Willi, Silver– Russell – SRS, Noonan syndromes), skeletal dysplasia of various origins; congenital and acquired metabolic disorders, intrauterine growth retardation, chronic somatic diseases; idiopathic forms (familial and non-familial variants), endocrine disorders. The presented review examines SRS from the perspective of a modern view of the problem of pathogenetic mechanisms, variants of clinical manifestations, as well as methods of diagnostic research and therapy. SRS is a rather rare genetic disease, the main manifestations of which are prenatal developmental delay, expressed in a deficiency of the newborn's body weight and length relative to gestational age, as well as postnatal hypotrophy, accompanied by various congenital anomalies caused by disorders of embryogenesis. Typical clinical signs of this syndrome include: relative macrocephaly at birth, triangular facial contour, disproportionate body type, clinodactyly, and the presence of areas of skin hyperpigmentation. Birth weight in children with SRS does not exceed 2500 g, height is less than 45 cm. One third of children with the syndrome are born prematurely, while the anthropometric indicators also do not correspond to the gestational age, which indicates a primordial nanism. Children have a decreased appetite and slow weight gain. The prognosis for SRS is generally favorable if the disease is diagnosed in time and adequate therapy is carried out. Most patients successfully adapt to society and develop intellectually within normal limits, despite short stature and specific appearance features.