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Related Concept Videos

Bone Formation by Endochondral Ossification01:24

Bone Formation by Endochondral Ossification

Bone formation, or ossification, begins around the sixth to seventh week of embryonic development. Most bones develop from a cartilaginous template through the process of endochondral ossification. Cartilage formation begins when clusters of mesenchymal cells differentiate into chondrocytes. These chondrocytes proliferate rapidly and secrete an extracellular matrix that becomes encased in a membrane called the perichondrium. The resulting cartilage model provides a template that resembles the...
Bone Formation by Intramembranous Ossification01:29

Bone Formation by Intramembranous Ossification

Intramembranous ossification is one of the two processes involved in the development of bones within an embryo. The flat bones of the face, most of the cranial bones, and the clavicles are formed via this process. During intramembranous ossification, the bones develop directly from sheets of undifferentiated mesenchymal connective tissue.
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into...
Changes in the Appendicular Skeleton with Age01:09

Changes in the Appendicular Skeleton with Age

The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
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Development of the Limb Synovial Joints

Joints form during embryonic development in conjunction with the formation and growth of the associated bones. The embryonic tissue that gives rise to all bones, cartilage, and connective tissues of the body is called mesenchyme.
The mesenchymal stem cells differentiate into chondrocytes that form the hyaline cartilage, and later the cartilaginous model of the bone. This model further transforms into a bone. This process is known as endochondral ossification.
During development, the limbs...
Overview of the Axial Skeleton01:09

Overview of the Axial Skeleton

The skeleton is subdivided into two major divisions—the axial skeleton and the appendicular skeleton. The axial skeleton forms the vertical, central axis of the body. It includes all of the bones of the head, neck, chest, and back. It protects the brain, spinal cord, heart, and lungs. It also serves as the attachment site for muscles that move the head, neck, and back and for muscles that act across the shoulder and hip joints to move their corresponding limbs.
The axial skeleton of the adult...
Introduction to the Skeletal System01:20

Introduction to the Skeletal System

The skeletal system is the central framework of the body, consisting of different connective tissues: bones, cartilage, tendons, and ligaments.
Components of the Skeletal System
Bone, or osseous tissue, is a hard connective tissue that forms an internal support structure for the human body. Bones shield vulnerable organs and soft tissue from external forces. For example, the vertebral bones protect and support the spinal cord.
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Schimke immunoosseous dysplasia: defining skeletal features.

Kshamta B Hunter1, Thomas Lücke, Jürgen Spranger

  • 1Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

European Journal of Pediatrics
|December 17, 2009
PubMed
Summary

Schimke immunoosseous dysplasia (SIOD) involves skeletal and immune issues. Skeletal features alone cannot distinguish between patients with or without SMARCAL1 gene mutations, complicating diagnosis.

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Area of Science:

  • Genetics
  • Skeletal Dysplasias
  • Immunology

Background:

  • Schimke immunoosseous dysplasia (SIOD) is a rare autosomal recessive disorder.
  • Key features include spondyloepiphyseal dysplasia (SED), T cell deficiency, and focal segmental glomerulosclerosis.
  • SMARCAL1 gene mutations are the sole known cause, yet many patients lack detectable mutations.

Purpose of the Study:

  • To investigate if skeletal radiographic features can differentiate SIOD patients with and without SMARCAL1 mutations.
  • To refine diagnostic criteria for SIOD based on skeletal manifestations.

Main Methods:

  • Analysis of skeletal radiographs from 22 patients with confirmed SMARCAL1 mutations and 11 patients without detectable mutations.
  • Detailed examination of specific skeletal regions, including spine, pelvis, epiphyses, and long bones.

Main Results:

  • Patients with SMARCAL1 mutations exhibited SED primarily affecting the spine, pelvis, and capital femoral epiphyses.
  • Hands and other long bones were largely unaffected in patients with SMARCAL1 mutations.
  • Seven out of eleven patients without detectable SMARCAL1 mutations showed indistinguishable SED patterns.
  • Osteoporosis and coxarthrosis were observed in some adolescent and adult patients.

Conclusions:

  • Spondyloepiphyseal dysplasia (SED) is a characteristic feature in SIOD patients, irrespective of SMARCAL1 mutation status.
  • Skeletal features alone are insufficient to distinguish between SIOD patients with and without SMARCAL1 mutations.
  • Further diagnostic approaches are needed for patients lacking detectable SMARCAL1 mutations.