TY - JOUR T1 - Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome JF - Archives of Disease in Childhood JO - Arch Dis Child SP - 353 LP - 358 DO - 10.1136/archdischild-2013-305864 VL - 100 IS - 4 AU - Céline Marsaud AU - Sylvie Rossignol AU - Patrick Tounian AU - Irène Netchine AU - Béatrice Dubern Y1 - 2015/04/01 UR - http://adc.bmj.com/content/100/4/353.abstract N2 - Objectives Silver–Russell syndrome (SRS) is an imprinted disorder characterised by intrauterine growth retardation, relative macrocephaly, failure to thrive, typical facial phenotype and frequent body asymmetry. Feeding difficulties are frequently noted, but no study described evolution of gastrointestinal signs during infancy and their management in SRS. The aim of this study was to describe these abnormalities in a large cohort of children with SRS. Design We included 75 patients (median age 24.3 months (5.1–135.2)) in the study. We retrospectively analysed nutritional status before growth hormone therapy, the frequency of gastrointestinal signs, such as gastroesophageal reflux (GER), vomiting, constipation and feeding difficulties, and nutritional management. Results Maternal uniparental disomy for chromosome 7 was found in 10 patients and 11p15 hypomethylation in 65 patients. Malnutrition (defined as a weight/expected weight for height ratio <80%) was detected in 70% of the children. Gastrointestinal signs were found in 77%, including severe vomiting before the age of 1 year in 50% of cases, persistent vomiting from the age of 1 year in 29% of cases and constipation in 20% of cases. Severe GER was diagnosed in 55% of children by 24 h oesophageal pH-metry. Feeding difficulties were described in 65% of cases, with indications for dietary enrichment in 49%. Enteral nutrition by gastrostomy was indicated in 22% of cases. Conclusions Digestive signs (GER, constipation) and malnutrition are frequent in children with SRS. The systematic exploration and management of these signs are crucial to improve the nutritional status of these children before initiating growth hormone therapy. ER -