Russel — Silver syndrome a 7-month-old child: case report
DOI: 10.32364/2618-8430-2021-4-1-103-105
N.R. Khafizova, D.R. Merzlyakova, Yu.F. Safina
Bashkir State Medical University, Ufa, Russian Federation
Russel – Silver syndrome (RSS) is a hereditary disease manifesting with intrauterine growth retardation, dwarfism, and other stigmas of embryopathy. We describe this rare genetic condition in a 7-month-old baby. The changes in physical condition and neurological status, clinical signs, laboratory tests, and management strategy are addressed. A genetic condition was suggested through an arrested development and stigmas of embryopathy only at the age of 7 months. At the age of 5 months, hydrocephaly was suspected due to asymmetrical proportions of the body (the relatively large size of head compared to a small body). However, neurosonography ruled out this diagnosis. Genetic testing for microsatellite loci on chromosome 7, which identified abnormal methylation of H19 gene verified the final diagnosis.
Keywords: Russel – Silver syndrome, child, intrauterine growth retardation, pseudohydrocephalus, dwarfism, genetic counseling.
For citation: Khafizova N.R., Merzlyakova D.R., Safina Yu.F. Russel – Silver syndrome a 7-month-old child: case report. Russian Journal of Woman and Child Health. 2021;4(1):103–105. DOI: 10.32364/2618-8430-2021-4-1-103-105.
2. Korovkina E.A., Zhilina S.S., Konjuhova M.B. et al. Silver — Russell syndrome: analysis of clinical polymorphism. Children’s hospital. 2008;3(33) 3:14–18 (in Russ.).
3. Novikov P.V. 2009. Semiotics of hereditary diseases at children (symptom — syndrome — illness). M. Ed. Triada-Х; 2009 (in Russ.).
4. Bliek J., Terhal P., van den Bogaard M.J. et al. Hypomethylation of the h19 gene causes not only Silver — Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am J Hum Genet. 2006;78(4):604–614. DOI: 10.1086/502981.
5. McCann J.A., Zheng H., Islam A. et al. Evidence against GRB10 as the gene responsible for Silver — Russell syndrome. Biochem Biophys Res Commun. 2001;286:943–948. DOI: 10.1006/bbrc.2001.5500.
6. Monk D., Bentley L., Hitchins M. et al. Chromosome 7p disruptions in Silver — Russell syndrome: delineating an imprinted candidate gene region. Hum Genet. 2002;111:376–387. DOI: 10.1007/s00439-002-0777-4.
This work is licensed under a Creative Commons «Attribution» 4.0 License.
