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Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
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Jaws features in Type 1 Gaucher disease.

Itai Zeevi1, Yakir Anavi, Ilana Kaplan

  • 1Department of Oral and Maxillofacial Surgery, Rabin Medical Center, Beilinson Campus, Petach Tikva, and Sackler Faculty of Medicine, Tel Aviv University, Israel.

Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons
|December 26, 2012
PubMed
Summary
This summary is machine-generated.

Gaucher disease commonly affects the jaws, presenting as generalized osteopenia or well-defined radiolucent lesions. These findings challenge previous assumptions about its presentation and impact on bone structures.

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Area of Science:

  • Oral and Maxillofacial Radiology
  • Genetic Metabolic Disorders
  • Bone Diseases

Background:

  • Gaucher disease (GD) is a lysosomal storage disorder with rare oral manifestations.
  • Previous literature suggests specific radiographic patterns, but a comprehensive review is needed.

Observation:

  • Two new cases of jaw involvement in Gaucher disease were analyzed alongside 35 previously reported cases.
  • Radiographic findings included generalized osteopenia (83.8%) and well-defined radiolucent lesions (40.5%) in the mandible and maxilla.

Findings:

  • The mandible was affected in 97.3% of cases, with common findings including mandibular canal changes (56.7%) and cortical bone thinning (27%).
  • Generalized osteopenia is the most frequent manifestation, followed by well-defined radiolucent lesions, primarily in the mandible.
  • Cortical bone thinning/perforations and lamina dura thinning are more common than previously assumed.

Implications:

  • This review suggests two distinct bone abnormalities in Gaucher disease: generalized osteopenia and mandibular radiolucent lesions.
  • Findings refine the understanding of Gaucher disease's radiographic presentation in the jaws, aiding diagnosis and management.
  • The study refutes prior assumptions, highlighting osteopenia as the primary manifestation and emphasizing the frequency of cortical bone changes.