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The Holt-Oram syndrome: radiological approach
D Penne1, G Delanote, L Breysem
1Department of Radiology, University Hospitals, Leuven, Belgium.
Journal Belge De Radiologie
|June 1, 1997
Insights
Holt-Oram syndrome presents with heart defects and characteristic upper limb skeletal abnormalities in affected children. This report details the clinical and radiological features observed in a young female patient.
Area of Science:
- Pediatric Cardiology
- Clinical Genetics
- Skeletal Dysplasias
Background:
- Holt-Oram syndrome is a rare genetic disorder affecting limb and heart development.
- It is characterized by a spectrum of congenital heart defects and upper limb malformations.
Observation:
- This case report details a female child diagnosed with Holt-Oram syndrome.
- Clinical examination revealed significant cardiac anomalies.
- Radiological imaging demonstrated typical skeletal abnormalities of the forearms.
Findings:
- The primary findings in this patient were complex cardiac anomalies.
- Associated findings included characteristic malformations of the radius and ulna.
- The combination of cardiac and skeletal findings confirmed the Holt-Oram syndrome diagnosis.
Implications:
- Early diagnosis and management are crucial for improving outcomes in Holt-Oram syndrome.
- Understanding the specific clinical and radiological features aids in accurate diagnosis.
- Further research into the genetic basis and treatment strategies is warranted.
Abstract:
The clinical and radiological findings in a female child with Holt-Oram syndrome are reported. The most important features are cardiac anomalies associated with typical anomalies of the skeleton of the forearms.