title: A ten-year observation of somatic development of a first group of Polish children with Silver-Russell syndrome.
abstract: OBJECTIVE
  Silver-Russell syndrome is heterogeneous both clinically and genetically. The best known genetic aberrations existing in this syndrome are an 11p15 epimutation, present in 20-60% patients, and a maternal uniparental chromosome 7 disomy (7-15%) (upd(7)mat). Children with SRS suffer from physical growth impairments - intrauterine and after birth.
  
  
  METHODS
  The study group consisted of 38 children aged 2 to 17 (x=8.9 ± 4.0 years). These children had undergone a genetic analysis in search for the 11p15 epimutation and the upd(7)mat. Somatic growth was also analysed in terms of birth parameters and postnatal BMI, weight and height. The aforementioned parameters were compared in a subgroup of children with the genetic aberrations and with a control group of children born with IUGR.
  
  
  RESULTS
  In the study group a mean weight SD on birth was -3.41 ± 1.22, the birth height was -1.25 ± 2.08 SD and a head circumference of -3.56 ± 1.93 SD. No significant differences were noted between the SRS study group and the control group in reference to weight and head circumference (p>0.05). Such difference was, however, seen in birth height. Children with 11p15 epimutation had significantly lower weight and height at birth, but a significantly larger head circumference than children without this genetic aberration. When analysing further development of children with SRS, a significantly smaller height SD, body mass and BMI was observed, compared with children from the control group.
  
  
  CONCLUSIONS
  Children with SRS present impaired somatic development compared to children with IUGR, and these with a genetic aberration develop worse.
authors.affiliation: Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Sienko
authors.affiliation: Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Petriczko
authors.affiliation: Cytogenetics Unit, Department of Pathology, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Stanislaw
authors.initials: S
authors.lastname: Zajaczek
authors.affiliation: Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Polish-American Pediatric Institute, Jagiellonian University, Medical College, Cracow, Poland.
authors.forename: Agata
authors.initials: A
authors.lastname: Zygmunt-Gorska
authors.affiliation: Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Polish-American Pediatric Institute, Jagiellonian University, Medical College, Cracow, Poland.
authors.forename: Jerzy
authors.initials: J
authors.lastname: Starzyk
authors.affiliation: Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Alicja
authors.initials: A
authors.lastname: Korpysz
authors.affiliation: Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Jan
authors.initials: J
authors.lastname: Petriczko
authors.affiliation: Department of Hygiene, Epidemiology and Public Health Pomeranian Medical University, Szczecin, Poland.
authors.forename: Alicja
authors.initials: A
authors.lastname: Walczak
authors.affiliation: Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Mieczyslaw
authors.initials: M
authors.lastname: Walczak
mesh_terms: D000293:Adolescent; D001724:Birth Weight / Q000502:physiology; D001827:Body Height / Q000502:physiology; D015992:Body Mass Index; D002648:Child; D002657:Child Development / Q000502:physiology*; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000503:physiopathology*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D011044:Poland; D011897:Random Allocation; D056730:Silver-Russell Syndrome / Q000235:genetics / Q000503:physiopathology*; D013997:Time Factors
chemical_list: D005819:Genetic Markers