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In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

Published on: March 7, 2025

Imaging findings in Down syndrome.

Rupa Radhakrishnan¹, Alexander J Towbin

¹Department of Radiology, Cincinnati Children's Hospital Medical Center, MLC 5031, 3333 Burnet Ave., Cincinnati, OH, 45229-3039, USA.

Pediatric Radiology

|April 17, 2014

Summary

This summary is machine-generated.

Down syndrome (trisomy 21) is a common genetic disorder causing intellectual disability and physical features. This review covers common prenatal and postnatal imaging findings across all organ systems.

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Area of Science:

Genetics and Developmental Biology
Medical Imaging and Radiology

Background:

Down syndrome (trisomy 21) is the most frequent chromosomal abnormality.
Characterized by intellectual disability, distinct facial features, and potential multi-organ system abnormalities.
Cardiac and respiratory issues are leading causes of morbidity and mortality.

Purpose of the Study:

To comprehensively review common antenatal and postnatal imaging findings in Down syndrome.
To illustrate the manifestation of these findings throughout the body.

Main Methods:

Review of antenatal and postnatal imaging studies.
Correlation of imaging findings with clinical presentation in Down syndrome.
Systematic examination of imaging manifestations across various organ systems.

Main Results:

Identified characteristic facial and musculoskeletal findings for postnatal diagnosis.
Detailed common cardiac and respiratory abnormalities, major causes of mortality.
Documented diverse imaging findings across multiple organ systems, detectable prenatally and postnatally.

Conclusions:

Imaging plays a crucial role in diagnosing and managing Down syndrome.
Early identification of potential abnormalities through imaging aids in timely intervention.
A comprehensive understanding of imaging findings is essential for patient care.