Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. From conception to infancy - early risk factors for childhood obesity

    Research output: Contribution to journalReviewResearchpeer-review

  2. Improving pregnancy outcomes in women with diabetes mellitus: modern management

    Research output: Contribution to journalReviewResearchpeer-review

  3. Glucagon-like peptide 1 in health and disease

    Research output: Contribution to journalReviewResearchpeer-review

  4. Chronic endocrine consequences of traumatic brain injury - what is the evidence?

    Research output: Contribution to journalReviewResearchpeer-review

  1. Autism and developmental disability caused by KCNQ3 gain-of-function variants

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Emma L Wakeling
  • Frédéric Brioude
  • Oluwakemi Lokulo-Sodipe
  • Susan M O'Connell
  • Jennifer Salem
  • Jet Bliek
  • Ana P M Canton
  • Krystyna H Chrzanowska
  • Justin H Davies
  • Renuka P Dias
  • Béatrice Dubern
  • Miriam Elbracht
  • Eloise Giabicani
  • Adda Grimberg
  • Karen Grønskov
  • Anita C S Hokken-Koelega
  • Alexander A Jorge
  • Masayo Kagami
  • Agnes Linglart
  • Mohamad Maghnie
  • Klaus Mohnike
  • David Monk
  • Gudrun E Moore
  • Philip G Murray
  • Tsutomu Ogata
  • Isabelle Oliver Petit
  • Silvia Russo
  • Edith Said
  • Meropi Toumba
  • Zeynep Tümer
  • Gerhard Binder
  • Thomas Eggermann
  • Madeleine D Harbison
  • I Karen Temple
  • Deborah J G Mackay
  • Irène Netchine
View graph of relations

This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result from a molecular test does not exclude the diagnosis of SRS. The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Clinicians should be aware of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance. Treatment with gonadotropin-releasing hormone analogues can delay progression of central puberty and preserve adult height potential. Long-term follow up is essential to determine the natural history and optimal management in adulthood.

Original languageEnglish
JournalNature reviews. Endocrinology
Volume13
Issue number2
Pages (from-to)105-124
ISSN1759-5029
DOIs
Publication statusPublished - 2 Sep 2017

ID: 48958235