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定义 英文原文（暂无中文）

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes.

别名

新生儿窒息性胸腔营养不良

基本事实

遗传方式

常染色体隐性

发病年龄

产前、新生儿期

患病率

1-9 / 100 000（Europe）

相关基因 11

临床表型 24

近两年的全球研究 65L2

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
  Outcomes of Spinal Deformity Treatment in Asphyxiating Thoracic Dystrophy
  Journal of pediatric orthopedics · DOI · Europe PMC
• 2026-07病例报告
  Combined Wang Procedure and MatrixRIB Reconstruction for Severe Type II Asphyxiating Thoracic Dysplasia: A Case Report
  Journal of chest surgery · DOI · Europe PMC
• 2026-07病例报告
  Case Report: Surgical management of thoracic chondrodysplasia in children: complete mobile thoracic replacement
  Frontiers in surgery · DOI · Europe PMC
• 2026-06开放获取
  Intraflagellar transport protein IFT172 contains a C-terminal ubiquitin-binding U-box-like domain involved in ciliary signaling
  eLife · DOI · Europe PMC
• 2026-06病例报告开放获取
  A rare cause of neonatal respiratory distress: Jeune syndrome
  Radiology case reports · DOI · Europe PMC
• 2026-06开放获取
  Chromosomal Microarray Analysis in Critically Ill Neonates and Children: Diagnostic Yield and Clinical Utility
  Life (Basel, Switzerland)
• 2026-05综述开放获取
  Case review: adult epithelial type Wilms tumor in a 23-year-old female
  Frontiers in oncology · DOI · Europe PMC
• 2026-04开放获取
  Paediatric Long-Term Home Respiratory Support: Recommendations of the Swiss Society of Paediatric Pulmonology
  Respiration; international review of thoracic diseases · DOI · Europe PMC
• 2026-04综述
  The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations
  Pediatric pulmonology · DOI · Europe PMC
• 2026-03开放获取
  The First 13 Years of "Percorso Giacomo": Patients' Outcomes
  Children (Basel, Switzerland) · DOI · Europe PMC
• 2026-03病例报告开放获取
  Bilateral Fist Lid-Lift: A Novel Compensatory Behavior in an Infant with Blepharophimosis Syndrome
  Children (Basel, Switzerland) · DOI · Europe PMC
• 2026-02开放获取
  Reimagining care of people living with rare diseases with artificial intelligence
  PLoS medicine · 被引 1 · DOI · Europe PMC
• 2026-02综述开放获取
  Psychological Impact of Congenital Chest Wall Deformities Among Adolescents and Young Adults
  Children (Basel, Switzerland)
• 2026-01开放获取
  Rod-Cone Dystrophy Related WDR34 Is Essential for Ciliary Integrity and Survival of Mammalian Photoreceptor Cells
  Investigative ophthalmology & visual science · DOI · Europe PMC
• 2025-12开放获取
  DEDUCE: statistical inference on disease-associated genes uncovers tissue-disease associations
  NAR genomics and bioinformatics · DOI · Europe PMC
• 2025-12开放获取
  Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management
  Case reports in dentistry · DOI · Europe PMC
• 2025-12病例报告
  A Letter from the Mother of a Child with Jeune Syndrome: A Qualitative Analysis
  Clinical pediatrics · DOI · Europe PMC
• 2025-12病例报告开放获取
  Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report
  Cureus · DOI · Europe PMC
• 2025-11综述开放获取
  Primary cilia function as hubs for signal transduction
  Cell & bioscience · 被引 4 · DOI · Europe PMC
• 2025-10病例报告开放获取
  A rare case of Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) associated with keratoconus: a multidisciplinary approach to diagnosis and management
  BMC ophthalmology · DOI · Europe PMC

外部标识与链接