Related Experiment Videos
Down syndrome: imaging of multiorgan involvement
1Department of Diagnostic Radiology, University of Kentucky Medical Center, Lexington 40536-0084, USA.
Clinical Pediatrics
|August 24, 1999
Summary
Down syndrome (trisomy 21) presents with diverse imaging findings across multiple organ systems. Early recognition of these anomalies aids in diagnosis and family counseling for potential health issues.
Area of Science:
- Radiology
- Pediatrics
- Genetics
Background:
- Down syndrome (trisomy 21) is a genetic disorder with widespread effects.
- Patients with Down syndrome exhibit a high prevalence of congenital anomalies.
Purpose of the Study:
- To comprehensively review the spectrum of imaging findings in Down syndrome.
- To highlight common and significant anomalies affecting various organ systems.
Main Methods:
- Review of imaging findings in patients with Down syndrome.
- Correlation of imaging findings with known clinical manifestations.
Main Results:
- Common findings include congenital heart disease, gastrointestinal anomalies (e.g., duodenal atresia), and increased leukemia incidence.
- Pulmonary, neurologic, and musculoskeletal abnormalities are frequently observed, including "triple jeopardy" of the upper cervical spine.
- Specific findings detailed: cardiac, GI, pulmonary, neurologic, musculoskeletal, and cervical spine abnormalities.
Conclusions:
- A broad range of imaging findings are associated with Down syndrome.
- Understanding these anomalies is crucial for accurate diagnosis, management, and family counseling.