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Volume 16 Issue 1
Jan.  2025
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XU Kexin, LI Guozhuang, WU Zhihong, ZHANG Jianguo, DISCO(Deciphering Disorders Involving Scoliosis & Comorbidities) Study Group, WU Nan. Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes[J]. Medical Journal of Peking Union Medical College Hospital, 2025, 16(1): 163-170. DOI: 10.12290/xhyxzz.2024-0173
Citation: XU Kexin, LI Guozhuang, WU Zhihong, ZHANG Jianguo, DISCO(Deciphering Disorders Involving Scoliosis & Comorbidities) Study Group, WU Nan. Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes[J]. Medical Journal of Peking Union Medical College Hospital, 2025, 16(1): 163-170. DOI: 10.12290/xhyxzz.2024-0173
shu

Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes

  • 1.

    Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

  • 2.

    Beijing Key Laboratory of Big Data Innovation and Application for Skeletal Health Medical Care, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

  • 3.

    Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

  • 4.

    State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

  • 5.

    Medical Science Research Center (MRC), Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

Funds: 

National Key Research and Development Program of China 2022YFC2703100

The National High Level Hospital Clinical Research Funding 2022-PUMCH-C-033

More Information
  • Corresponding author:

    WU Nan, E-mail: dr.wunan@pumch.cn

  • Received Date: March 21, 2024
  • Accepted Date: April 23, 2024
  • Available Online: November 20, 2024
  • Publish Date: November 19, 2024
  • Issue Publish Date: January 29, 2025
    Graphical Abstract
    • Abstract

  • Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Short stature is defined as a height that is two standard deviations or more below the average height for individuals of the same age, sex, and race. The etiopathogenesis of short stature is complicated. Early detection and appropriate intervention are essential in disease treatment. However, short stature is not common among all EDS subtypes. It is frequently observed in patients with rare subtypes, such as spondylodysplastic EDS, dermatosparaxis EDS, and musculo-contractural EDS. Besides, height may be affected by other factors including spinal curvature and malnutrition. Deep phenotyping and multidisciplinary team approaches are recommended for the diagnosis and management. Short stature in patients with EDS has not been sufficiently acknowledged in China. There is currently a lack of high-level evidence for the treatment of EDS-related short stature. Therefore, this review aims to present recent progress of diagnosis and management of short stature in patients with EDS. Further studies focusing on short stature in rare subtypes are necessary to advance precision medicine and enhance patient care.

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