Related Experiment Video
Updated: Feb 26, 2026

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
Airway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation
Enrique G Villarreal1,2, Jackie Chiang1,2, Evan J Propst3,4
1Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
None:
We report the first documented case of airway involvement in Conradi-Hünermann-Happle syndrome (CDPX2), an X-linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2-month-old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross-sectional imaging demonstrated extensive laryngotracheal calcifications. Serial endoscopic balloon dilations successfully restored airway patency, enabled weaning from respiratory support, and avoided tracheostomy, expanding the recognized clinical spectrum of CDPX2 and highlighting the potential role of minimally invasive airway intervention in selected cases.
More Related Videos
09:03Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic
Published on: November 7, 2020
06:15Author Spotlight: Investigating the Key Factors of Obliterative Bronchiolitis After Lung Transplantation
Published on: November 10, 2023
Related Concept Videos
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...
Chronic Obstructive Pulmonary Disease-III: Symptoms and Complications.
Symptoms of COPD can be classified as primary or systemic. Primary symptoms relate to reduced airflow, while systemic or extrapulmonary symptoms relate to COPD's broader impact on the body.
Primary Symptoms of COPD:
Cardiopulmonary Resuscitation V: Advanced Airway Management Techniques
Pulmonary Hypertension: Classification and Pathogenesis
There are various classifications for PH, each relating to different underlying causes and also...
Asthma-II: Pathophysiology and Classification
Additionally, environmental and genetic factors play crucial roles in determining an individual's susceptibility to asthma and the severity of their condition.
Critical processes in asthma pathophysiology include:
Gastroesophageal Reflux Disease II: Clinical Features and Management
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...