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Imaging manifestations in Proteus syndrome: an unusual multisystem developmental disorder

M J Kaduthodil1, D S Prasad, A S Lowe

  • 1Department of Clinical Radiology, Bradford Royal Infirmary, Bradford, UK. mathew.kaduthodil@dbh.nhs.uk

The British Journal of Radiology
|April 20, 2012
PubMed

Insights

This review highlights typical imaging findings for Proteus syndrome, a rare disorder with varied symptoms. Recognizing these imaging features can help diagnose this complex condition more effectively.

Area of Science:

  • Medical imaging
  • Genetics
  • Pediatric radiology

Background:

  • Proteus syndrome is a rare congenital disorder characterized by asymmetric, progressive overgrowth of multiple body parts.
  • It exhibits significant clinical heterogeneity, making diagnosis challenging.

Observation:

  • This review presents imaging findings in an 11-year-old male patient with Proteus syndrome.
  • The case illustrates the multisystemic nature and variability of the condition.

Findings:

  • Typical imaging features of Proteus syndrome across various modalities are described.
  • Emphasis is placed on recognizing characteristic patterns that aid in diagnosis.

Implications:

  • Enhanced recognition of imaging findings can improve diagnostic accuracy for Proteus syndrome.
  • This review aims to serve as a resource for clinicians encountering this rare disorder.

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