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Related Concept Videos

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
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The Functions of the Skeletal System01:22

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The most apparent functions of the skeletal system are support, protection, and movement. However, bone tissue also performs several other critical metabolic functions. For one, the bone matrix acts as a reservoir for a number of minerals important to the functioning of the body, especially calcium and phosphorus. These minerals, present in the bone tissue, can be released back into the bloodstream when required. Calcium ions, for example, are essential for muscle contractions and controlling...
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Bone Disorders01:29

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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.
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The skeletal system is the central framework of the body, consisting of different connective tissues: bones, cartilage, tendons, and ligaments.
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Skeletal muscles are composed of a bundle of muscle fibers and are attached to bones through tendons. Each skeletal muscle fiber is a single muscle cell. The sarcolemma, the plasma membrane of a skeletal muscle cell, consists of a lipid bilayer and glycocalyx that supports muscle fibers. The sarcolemma extends into the muscle cells to form tubular structures called transverse or T-tubules. Each side of the T-tubules consists of a membrane-bound structure called the sarcoplasmic reticulum,...
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Related Experiment Video

Updated: Apr 7, 2026

Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification
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Skeletal Dysplasias: An Overview.

Amaka C Offiah1

  • 1University of Sheffield, Academic Unit of Child Health, Stephenson Wing, Sheffield Children's NHS Foundation Trust, Sheffield, S Yorkshire, UK.

Endocrine Development
|July 4, 2015
PubMed
Summary

Skeletal dysplasias (SDs) are inherited bone disorders affecting growth and integrity. Diagnosis relies on radiographic pattern recognition using skeletal surveys and specialized tools.

Area of Science:

  • Genetics
  • Orthopedics
  • Radiology

Background:

  • Skeletal dysplasias (SDs) are inherited disorders impacting bone and cartilage growth, morphometry, and integrity.
  • These conditions can be classified as osteochondrodysplasias or dysostoses, with skeletal involvement also seen in other syndromes.
  • The 2010 classification recognized 456 SDs, with many linked to specific genes.

Purpose of the Study:

  • To summarize a systematic approach for diagnosing skeletal dysplasias (SDs).
  • To illustrate diagnostic methods using examples of common lethal and non-lethal SDs.
  • To emphasize the importance of radiographic pattern recognition in SD diagnosis.

Main Methods:

  • Performance of a standard series of radiographs, known as a skeletal survey, when SD is suspected.

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  • Systematic review of radiographic images for pattern recognition.
  • Utilizing diagnostic aids such as atlases and digital databases, alongside expert consultation.

    • Main Results:

    • Diagnosis of individual SD conditions is highly dependent on recognizing specific radiographic patterns.
    • A systematic approach enhances diagnostic accuracy.
    • Examples of common lethal and non-lethal SDs are used to demonstrate the diagnostic process.

    Conclusions:

    • Radiographic pattern recognition is crucial for diagnosing skeletal dysplasias.
    • A systematic diagnostic approach, supported by available tools and collaboration, is effective.
    • This article provides a framework for diagnosing various SDs.