ESPE Abstracts

Introduction: Silver-Russell Syndrome (SRS) is a rare genetic disease with an estimated prevalence of 1/100,000. It is characterized by the association of severe intrauterine growth retardation, postnatal failure to thrive, particular facial dysmorphism and asymmetry of the limbs. SRS is a pathology of parental imprinting. It is dependent on several imprinted genes, acting through different molecular mechanisms.

Case Report: A 30-month-old female child is brought to the pediatric endocrinology consultation for short stature. She was born at term to a non-consanguineous couple with intrauterine growth retardation and feeding difficulties from birth, requiring prolonged nasogastric feeding. The current clinical examination has objectified a delay in psychomotor development with severe growth retardation: weight at -4.6 Zs, height at -3 Zs, BMI at -4 Zs and relative macrocephaly +1.6 Zs. A prominent forehead, a slightly triangular face, muscle tone less than expected for his age and no obvious asymmetry of body or limbs noted. The rest of the somatic examination is unremarkable. Bone age corresponds to a delay of 1 year.

Discussion: SRS is a clinical diagnosis, based on the presence of at least 4 signs out of 6 of the Netchine-Harbison score (NH-CSS). Molecular testing can confirm the clinical diagnosis and molecular stratification can help guide management. Apart from the persistence of short stature and weak build, the long-term prognosis is good. The genetic counseling is possible.

Conclusion: SRS is a multi-system disorder and requires a specialised multi-disciplinary team for optimal management. Nutritional management is a key aspect from diagnosis throughout childhood. Growth hormone therapy is indicated for SRS, usually starting at 2–4 years old to improve height during childhood and final height prognosis.