Silver-Russell综合征

定义 英文原文（暂无中文）

A rare imprinting disorder, characterized by fetal growth restriction with no catch-up associated with feeding anomalies and dysmorphic features.

别名

Silver-Russell侏儒症

基本事实

遗传方式

常染色体显性、不适用

发病年龄

产前、新生儿期

患病率

1-5 / 10 000（Europe）

临床表型 53

近两年的全球研究 226L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-07
  Culture-dependent decoupling of <i>H19</i> allele-specific expression from <i>H19/IGF2</i>:IG-DMR methylation in experimental models
  Epigenetics · DOI · Europe PMC
• 2026-06
  Prenatal and Molecular Characteristics of 23 Cases with Silver-Russell Syndrome
  Fetal diagnosis and therapy · DOI · Europe PMC
• 2026-06开放获取
  HMGA2 regulates fear and growth: Canine GWAS and functional evidence
  iScience
• 2026-06开放获取
  Patients With Berardinelli-Seip and Silver-Russell Syndromes Hospitalized due to Coronavirus Disease (COVID)-19 in Brazil: A Four-Year Case Report Profile
  Case reports in infectious diseases · DOI · Europe PMC
• 2026-06综述开放获取
  Challenges and emerging strategies for genome-wide evaluation of loss of imprinting in cancer
  British journal of biomedical science · DOI · Europe PMC
• 2026-06综述开放获取
  Influence of Cryopreservation of Pre-Implantation Embryos on the Epigenome
  Cells · DOI · Europe PMC
• 2026-06开放获取
  Utility of prenatal trio whole-exome sequencing and methylation-specific multiplex ligation-dependent probe amplification in the evaluation of fetal growth restriction
  Frontiers in medicine · DOI · Europe PMC
• 2026-06开放获取
  21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy
  Case reports in endocrinology · DOI · Europe PMC
• 2026-06
  A young girl with partial chromosome 15q11.2 microduplication: a case report in Cameroon
  BMC pediatrics · DOI · Europe PMC
• 2026-06病例报告开放获取
  Anosmia in a patient with Silver-Russell syndrome
  BMJ case reports · DOI · Europe PMC
• 2026-05开放获取
  Tissue microRNA Profiling Identifies Prognostic Signatures in Prostate Cancer and Highlights CPEB3 as a Candidate Biomarker
  Biomedicines · DOI · Europe PMC
• 2026-05
  Longitudinal study of somatic development in Polish patients with Silver-Russell syndrome reveals that chest-to-head proportion as a new clinical indicator for the syndrome
  Orphanet journal of rare diseases · DOI · Europe PMC
• 2026-05开放获取
  <i>PLAG1</i> rearrangement may be an oncogenic driver in a subset of sporadic cardiac myxomas: a case-control study
  Frontiers in cardiovascular medicine · DOI · Europe PMC
• 2026-05病例报告开放获取
  Case Report: A <i>de novo NSD2</i> multiple exon deletion variant in a child with Rauch-Steindl syndrome
  Frontiers in pediatrics · DOI · Europe PMC
• 2026-05
  Temple Syndrome Is a Frequent Differential Diagnosis of Silver-Russell Syndrome, but Infrequently Suspected in Chile
  American journal of medical genetics. Part A · DOI · Europe PMC
• 2026-05开放获取
  Genome sequencing for the diagnosis of rare disorders: The Brazilian Rare Genomes Project
  HGG advances · DOI · Europe PMC
• 2026-05开放获取
  Early Initiation of rhGH Therapy Significantly Improves Height Gain and Reduces the Gap to Target Height in Children Born Small for Gestational Age: A Multicenter Retrospective Study
  Children (Basel, Switzerland) · DOI · Europe PMC
• 2026-05综述开放获取
  Mulibrey Nanism: Clinical Spectrum and Molecular Pathogenesis
  International journal of molecular sciences · DOI · Europe PMC
• 2026-05开放获取
  Children born SGA receiving growth hormone have similarly impaired glucose-insulin metabolism as children with obesity
  The Journal of clinical endocrinology and metabolism · 被引 1 · DOI · Europe PMC
• 2026-04开放获取
  Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
  American journal of human genetics · 被引 1 · DOI · Europe PMC

中国境外的在招试验 3L2

共 3 项。

• 尚未开始招募NCT06878716
  Silver Russell Syndrome, Parental Fertility and Assisted Reproductive Technology
  观察性 · 2025/03Assistance Publique - Hôpitaux de Paris
  法国
• 招募中NCT05945576
  IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
  观察性 · 2017/03/10Institut National de la Santé Et de la Recherche Médicale, France
  法国
• 招募中NCT01793168
  Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
  观察性 · 2010/07Sanford Health
  澳大利亚、美国

外部标识与链接