Related Experiment Video
Updated: May 10, 2026

Establishment and Evaluation of a Sheep Model of Full-thickness Osteochondral Defect
Published on: April 14, 2026
Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis
Aim:
Léri-Weill dyschondrosteosis (LWD) is a mesomelic dysplasia with disproportionate short stature associated with short stature homeobox-containing gene (SHOX) haploinsufficiency. The objective of this study was to improve the diagnosis of patients with suspected LWD through molecular analysis.
Methods:
Twelve patients from 11 families with a clinical diagnosis of LWD were analyzed with multiplex ligation-dependent probe amplification to detect deletions and duplications of SHOX and its enhancer regions. High resolution melting and sequencing was employed to screen for mutations in SHOX coding exons.
Results:
The molecular-based screening strategy applied in these patients allowed detection of five SHOX deletions and two previously unreported SHOX missense mutations.
Conclusion:
Molecular studies confirmed the clinical diagnosis of LWD in seven out of 12 patients, which provided support for therapeutic decisions and improved genetic counseling in their families.
Related Concept Videos
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
Mitral Stenosis II: Clinical features and Diagnostic Tests
COPD: Pathogenesis and Clinical Features
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
Myocarditis II: Clinical Features and Diagnostic Tests
Chronic Obstructive Pulmonary Disease-II: Pathophysiology
Chronic Inflammation