Clinical and genetic diagnosis and management of Silver-Russell syndrome: Report of four cases.

Abstract

Background: Silver-Russell syndrome (SRS) is a clinically heterogeneous entity characterized by intrauterine and postnatal growth restriction, relative macrocephaly at birth, distinct facial features, and body asymmetry combined with other malformations.

Case summary: Herein, we describe four individuals with SRS, focusing on their prenatal phenotype, postnatal presentation, diagnosis, and management. All cases had a typical phenotype, including postnatal growth failure, short stature (chronic malnutrition), and protruding forehead. Individually, they presented with feeding difficulties, leg length discrepancy, triangular face, or relative macrocephaly at birth, and each one exhibited distinct SRS features, including motor and/or speech delay, experiencing frequent hypoglycemic episodes. The fact that each patient exhibited a different combination of clinical findings underlines the heterogeneity of the syndrome.

Conclusion: SRS is diagnosed clinically. However, only 60% of cases are genetically confirmed, while most are sporadic. Although SRS is a well-described syndrome, a delayed diagnosis can have grave consequences on a child's growth. Recombinant human growth hormone treatment is often initiated shortly after the diagnosis. The follow-up requires a multidisciplinary approach.