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Pediatr Endocrinol Diabetes Metab. 2015;20(3):101-6. doi: 10.18544/PEDM-20.03.0009.

Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background.

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Department of Infants and Newborn Pathology, Paediatric Centre, Sosnowiec, Poland.
Katedra i Klinika Pediatrii, Endokrynologii i Diabetologii Dziecięcej, Śląski Uniwersytet Medyczny, Katowice, Polska.
Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland; West Midlands Genetics Laboratories, Birmingham Women's Hospital NHS Foundation Trust, Edgbaston, Birmingham, UK.
Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.


in English, Polish

Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogeneous entity, caused by (epi)genetic alternations. It is characterized by prenatal and postnatal growth retardation, relative macrocephaly, the triangular face and body asymmetry. About 40-60% of cases are caused by hypomethylation of 11p.15.5 Imprinting Centre Region 1 (ICR1) on the paternal chromosome, and maternal uniparental disomy for chromosome 7 (UPD(7)mat) is found in 5-10% of cases. There are suggested correlations between genotype and the phenotype. Psychomotor development may be delayed, usually mildly, with school difficulties and speech delay more common in patients with UPD(7)mat. Children with 11p15 hypomethylation are shorter and lighter at birth in comparison to children with UPD(7)mat, however further deceleration tends to be more apparent in the latter group. The onset of puberty tends to occur early, with acceleration of bone age, resulting in less apparent growth spurt. Failure to thrive and feeding problems are characteristic for the infant period, and further development of a child may be conditioned by additional congenital defects.


11p15 epimutation; Silver-Russell syndrome; UPD(7)mat; epigenetics; genomic imprinting; intrauterine growth restriction

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