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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Bone Disorders01:29

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...

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Related Experiment Video

Updated: Jun 12, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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[Melorheostosis (case history).].

J Skála-Rosenbaum1, J Stehlík, A Nejedlý

  • 1Ortopedicko-traumatologická klinika 3. LF UK a FNKV, Praha.

Acta Chirurgiae Orthopaedicae Et Traumatologiae Cechoslovaca
|May 25, 2010
PubMed
Summary

Melorheostosis, a rare bone disorder, caused progressive knee stiffness in a 10-year-old patient. Despite surgery, the condition worsened, highlighting challenges in managing this rare disease.

Area of Science:

  • Orthopedics
  • Rare bone diseases
  • Medical case studies

Context:

  • Melorheostosis is a rare, benign hyperostosis of bone characterized by irregular, flowing ossification along the diaphysis of long bones.
  • The condition typically affects one limb and can lead to significant functional impairment.

Purpose:

  • To present a case study of a pediatric patient diagnosed with melorheostosis affecting the left lower extremity.
  • To highlight the challenges in managing progressive knee joint stiffness caused by melorheostosis.
  • To discuss the specific features of melorheostosis and outline a potential treatment plan.

Summary:

  • A 10-year-old patient with melorheostosis experienced progressive loss of knee flexion in the left lower extremity.
  • A surgical intervention for soft tissue release was complicated by wound infection and dehiscence, leading to further reduction in knee range of motion.

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  • The authors emphasize the rarity of melorheostosis (1:1,000,000 incidence) and detail the patient's ongoing management strategy.

    • Impact:

    • This case underscores the complex and often challenging nature of managing melorheostosis, particularly in pediatric patients.
    • It highlights the need for specialized treatment approaches to address functional limitations and potential complications.
    • Further research and case reports are crucial for improving understanding and therapeutic outcomes for this rare condition.