Hosting 723 files, 2931 images, and 4 contributors.

Random Case

Heather Borders, MD
over 8 years ago
Enter A Workflow
Standard2   Academic2

Please choose a workflow. A standard workflow allows you to browse the repository with full case detail; the academic workflow allows you to browse the repository with limited case detail revealed. Double click on the images to launch image viewer.

ARSt Case Repository

Case History

Teenager with loss of consciousness after sledding accident

Case Detail

Anatomy: Neck-Face
Joseph Junewick, MD FACR
Diagnostic Category: Genetic
Created: over 9 years ago
Updated: over 6 years ago
Tags: PEDS
Modality/Study Types: CT
Adobe32 PDF Imagej32 ImageJA

Case Images

Academic Case Revealer (Click to Expand)

Reveal Findings

Lenticular dislocation (ectopia lentis) related to lax suspensory ligaments.

Reveal Discussion

Marfan syndrome is an autosomal dominant genetic disorder with variable expression resulting in a defective fibrillin-1 protein (a component of elastin). The mutation is sporadic in 15-30%. Abnormalities associated with Marfan syndrome include: scoliosis, pectus deformity, cardiac valve dysfunction, arterial aneurysm and dissection, intestinal hernias and diverticula, joint laxity, pulmonary blebs, liver and renal cysts, and arachnodactyly.

Reveal Diagnosis

Lens dislocation related to Marfan syndrome.

Corporate Office: 616.363.7272, 3264 North Evergreen Drive, Grand Rapids, MI 49525

Spectrum Health Helen Devos Childrens Hospital GE HealthCare