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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Merkel Cell Polyomavirus Infection and Detection
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Case 228: Mueller-Weiss Disease.

Kimia Khalatbari Kani1, Hyojeong Mulcahy1, Felix S Chew1

  • 1From the Department of Radiology, University of Washington, 1959 NE Pacific St, Seattle, WA 98195.

Radiology
|March 19, 2016
PubMed
Summary

A 53-year-old woman experienced persistent left foot pain, worsening with weight-bearing. Imaging revealed talonavicular joint tenderness and a flattened medial arch, suggesting a complex foot condition requiring further investigation.

Area of Science:

  • Orthopedics
  • Radiology
  • Podiatry

Background:

  • A 53-year-old female presented with chronic, progressive left dorsomedial foot pain exacerbated by weight-bearing.
  • Previous conservative treatments at another facility were ineffective, and there was no history of trauma or systemic disease.

Observation:

  • Physical examination identified tenderness localized to the left talonavicular joint.
  • A flattened medial arch of the left foot was also noted.
  • Routine laboratory tests, including complete blood count and basic serum chemistry, showed no abnormalities.

Findings:

  • Weight-bearing radiography and computed tomography (CT) of the feet were performed for diagnostic evaluation.
  • The imaging aimed to identify the underlying cause of the persistent foot pain and structural changes.

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Implications:

  • Diagnostic imaging is crucial for evaluating complex foot pain unresponsive to conservative management.
  • Understanding the talonavicular joint's role and medial arch support is key in diagnosing and treating such conditions.