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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
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Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Related Experiment Video

Updated: Jun 20, 2025

Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification
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Metachondromatosis: A Confusing Disease.

Alejandro Blasco1, Marta Salom2, Francisco Giner3

  • 1Membro Superior e Unidade Nervosa Periférica, Hospital Universitário Politécnico de La Fé, Valência, Espanha.

Revista Brasileira De Ortopedia
|July 19, 2024
PubMed
Summary

Metachondromatosis is a rare genetic disorder affecting the PTPN11 gene. This case highlights key diagnostic features, including atypical osteochondroma-like lesions and enchondromas, crucial for differentiating it from other bone tumors.

Keywords:
bone neoplasms/pathologychildenchondromasexostoses, multiple hereditaryosteochondromas

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Area of Science:

  • Genetics
  • Orthopedics
  • Radiology

Background:

  • Metachondromatosis is a rare autosomal dominant genetic disease.
  • It involves abnormal PTPN11 gene function and presents diagnostic challenges for orthopedists.
  • Differentiating metachondromatosis from osteochondromas and enchondromas is vital due to differing natural histories and malignant potential.

Purpose of the Study:

  • To report a case of metachondromatosis in a 5-year-old girl.
  • To describe the unique clinical and radiographic findings.
  • To emphasize the importance of considering metachondromatosis in differential diagnoses.

Main Methods:

  • Case report of a 5-year-old girl.
  • Clinical and radiographic evaluation of bone lesions.
  • Multidisciplinary team discussion.

Main Results:

  • Multiple osteochondroma-like lesions growing towards the epiphysis were observed.
  • Columnar enchondroma-like lesions were present in the distal radius, proximal femur, and iliac crests.
  • The patient reported spontaneous regression of some lesions.

Conclusions:

  • Metachondromatosis diagnosis requires a combination of clinical, radiographic, and histopathological findings.
  • Atypical osteochondroma-like lesions pointing towards the epiphysis, coupled with enchondromas and lesion regression, suggest metachondromatosis.
  • Genetic counseling is recommended due to its autosomal dominant inheritance.