Related Experiment Videos
Premature tracheobronchial, laryngeal and costochondral cartilage calcification in children
M C Haddad1, H S Sharif, M S Jared
1Department of Diagnostic Radiology and Imaging, Riyadh Armed Forces Hospital, Kingdom of Saudi Arabia.
Clinical Radiology
|January 1, 1993
Insights
Two children experienced premature calcification of cartilage in their airways and ribs, alongside heart defects. One child presented with features of Keutel syndrome, a rare genetic disorder.
Area of Science:
- Medical Genetics
- Pediatric Cardiology
- Radiology
Background:
- Premature calcification of cartilage is a rare condition affecting airways and skeletal structures.
- Congenital cardiovascular anomalies can occur in isolation or as part of genetic syndromes.
- Keutel syndrome is a rare autosomal recessive disorder characterized by brachydactyly, pulmonary stenosis, and calcification of cartilage.
Observation:
- This report details two pediatric cases with premature tracheobronchial, laryngeal, and costochondral cartilage calcification.
- Both patients exhibited associated congenital cardiovascular anomalies.
- One patient displayed clinical features consistent with Keutel syndrome.
Findings:
- The described cases highlight a potential association between widespread premature cartilage calcification and congenital heart disease.
- The presentation in one patient suggests Keutel syndrome may manifest with broader cartilage calcification than previously recognized.
- Detailed clinical and radiological findings are presented for both children.
Implications:
- These findings may expand the phenotypic spectrum of Keutel syndrome and related cartilage calcification disorders.
- Early recognition of these features is crucial for timely diagnosis and management of associated cardiovascular conditions.
- Further research is warranted to elucidate the genetic and molecular mechanisms underlying these complex presentations.
Abstract:
Two children with premature tracheobronchial, laryngeal and costochondral cartilage calcification are described. Both patients had associated congenital cardiovascular anomalies; one of them having features of Keutel syndrome.