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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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In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
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Updated: Jul 23, 2025

Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia
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Osteopoikilosis: a case report.

Behzad Mohsenpour1,2, Amjad Ahmadi3,4

  • 1Department of Infectious Diseases, Faculty of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran.

Journal of Medical Case Reports
|July 11, 2023
PubMed
Summary

This study describes a rare case of osteopoikilosis presenting with unusual skin lesions, spinal disc issues, and enthesopathy. This unique presentation suggests a novel variant of this rare bone disorder.

Area of Science:

  • Medical Case Reports
  • Rare Bone Disorders
  • Dermatology and Rheumatology

Background:

  • Osteopoikilosis, a rare bone disorder, is also known as disseminated condensing osteopathy or spotted bone disease.
Keywords:
Buschke–Ollendorff syndromeOsteopeciliaOsteopoikilosis

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  • This case highlights a unique presentation involving spinal disc lesions, extensive skin manifestations, and neurological symptoms.