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Hypertrophic Pyloric Stenosis
Joseph Junewick, MD FACR
over 8 years ago
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Case History


Teenager with loss of consciousness after sledding accident


Case Detail

Anatomy: Neck-Face
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Genetic
Created: over 8 years ago
Updated: over 6 years ago
Tags: PEDS
Modality/Study Types: CT
Activities:
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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.

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