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 243L2

2024/10 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。

• 2026-10
  Plag1 Regulates Sensorimotor Modulation in Zebrafish
  International journal of developmental neuroscience : the official jou · DOI · Europe PMC
• 2026-10开放获取
  Proteomic Signatures of Noise-Induced Hearing Loss in the Mouse Cochlea
  Cell biology international · DOI · Europe PMC
• 2026-09
  Author Correction: Diagnosis and management of Silver-Russell syndrome: second international consensus statement
  Nature reviews. Endocrinology · DOI · Europe PMC
• 2026-09开放获取
  Differential methylation at novel putative imprinting control regions on chromosome 20 associated with childhood obesity
  Epigenetics · DOI · Europe PMC
• 2026-09
  Does earlier initiation of growth hormone therapy improve outcomes in children with Silver-Russell syndrome?
  Archives of disease in childhood · DOI · Europe PMC
• 2026-09综述
  Diagnosis and management of Silver-Russell syndrome: second international consensus statement
  Nature reviews. Endocrinology · DOI · Europe PMC
• 2026-09综述开放获取
  Risk factors and preventive strategies for precocious puberty: a narrative review
  Frontiers in pediatrics · DOI · Europe PMC
• 2026-09开放获取
  Transcriptional dynamics of the murine heart during perinatal development at single-cell resolution
  Biology open · DOI · Europe PMC
• 2026-09综述开放获取
  Insulin-like growth factor receptor signaling in physiology and disease
  Signal transduction and targeted therapy · DOI · Europe PMC
• 2026-09开放获取
  Three decades of recombinant human growth hormone research in children born small for gestational age: a bibliometric analysis (1996-2025)
  Frontiers in pediatrics · DOI · Europe PMC
• 2026-09病例报告开放获取
  Case Report: Proportionate short stature in a three-generation family harboring <i>FGFR3</i> N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature
  Frontiers in endocrinology · DOI · Europe PMC
• 2026-09
  Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing
  Clinical genetics · DOI · Europe PMC
• 2026-09综述开放获取
  Epigenetic, environmental, and sex-specific programming of long-term health in Assisted Reproductive Technologies-conceived offspring†
  Biology of reproduction · DOI · Europe PMC
• 2026-08综述病例报告开放获取
  A Candidate MEST Splice-Site Variant in a Patient with Silver-Russell Syndrome-like Phenotype: First Report and Literature Review
  Genes · DOI · Europe PMC
• 2026-08
  1st Congress of the Tunisian Society of Human Genomics October 17-18 & 19, 2024, Sousse, Tunisia Genomics for a sustainable healthcare system
  Journal of community genetics · DOI · Europe PMC
• 2026-08开放获取
  Expanding the KBG syndrome phenotype through 2D facial morphometry, clinical and molecular characterization
  Biomedical reports · DOI · Europe PMC
• 2026-07开放获取
  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
• 2026-07病例报告开放获取
  Case Report: Sequential treatment of growth hormone deficiency and central precocious puberty in a girl with <i>EP300</i>-mutated Rubinstein-Taybi syndrome
  Frontiers in pediatrics · DOI · Europe PMC
• 2026-07系统综述开放获取
  Genetic and Epigenetic Mechanisms Underlying Phenotypic Discordance in Monochorionic Monozygotic Twins: A Systematic Review
  Genes · DOI · Europe PMC
• 2026-07病例报告开放获取
  Congenital absence of the long head of the biceps tendon: a case report
  Journal of surgical case reports · 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