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Related Concept Videos

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...
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...
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...
Growth of Cartilage and Bone Tissue01:27

Growth of Cartilage and Bone Tissue

Chondrocytes form a temporary cartilaginous model by dividing and secreting a thick gel-like extracellular matrix. Once the chondrocytes undergo programmed cell death, osteoblasts enter the site of the cartilaginous model. The process of replacing the temporary cartilaginous model with bone in an ordered manner is called endochondral ossification. In endochondral ossification, not all of the cartilage is replaced by bone tissue. Some cartilage that performs a protective and supportive function...
Development of the Limb Synovial Joints01:07

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...
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.
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Related Experiment Video

Updated: Jul 6, 2026

Culturing and Measuring Fetal and Newborn Murine Long Bones
06:58

Culturing and Measuring Fetal and Newborn Murine Long Bones

Published on: April 26, 2019

Achondroplasia.

Geneviève Baujat1, Laurence Legeai-Mallet, Georges Finidori

  • 1Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

Best Practice & Research. Clinical Rheumatology
|March 11, 2008
PubMed
Summary

Achondroplasia, a common skeletal dysplasia, is caused by FGFR3 gene mutations. Early diagnosis and multidisciplinary care are crucial for managing complications and improving quality of life.

Area of Science:

  • Genetics
  • Orthopedics
  • Developmental Biology

Background:

  • Achondroplasia is the most frequent non-lethal skeletal dysplasia, affecting 1 in 10,000 to 30,000 births.
  • Characterized by disproportionate short stature, midface hypoplasia, and spinal issues, it is associated with normal cognition.
  • This autosomal-dominant condition results from gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.

Purpose of the Study:

  • To provide a comprehensive overview of achondroplasia, encompassing its genetic basis, clinical presentation, diagnostic methods, and management strategies.
  • To highlight the importance of early diagnosis and multidisciplinary care in preventing and treating complications.
  • To emphasize the role of supportive care in enhancing the quality of life for patients and their families.

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Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification
07:23

Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification

Published on: December 3, 2016

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
09:20

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Published on: December 18, 2019

Related Experiment Videos

Last Updated: Jul 6, 2026

Culturing and Measuring Fetal and Newborn Murine Long Bones
06:58

Culturing and Measuring Fetal and Newborn Murine Long Bones

Published on: April 26, 2019

Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification
07:23

Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification

Published on: December 3, 2016

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
09:20

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Published on: December 18, 2019

Main Methods:

  • Diagnosis relies on clinical examination and age-specific radiological findings.
  • Genetic testing confirms the diagnosis, with over 95% of cases showing the G380R mutation in FGFR3.
  • Management involves a multidisciplinary team addressing potential complications.

Main Results:

  • The study details the characteristic phenotype of achondroplasia, including rhizomelic short stature and specific facial and spinal features.
  • Identifies specific genetic mutations (primarily G380R in FGFR3) as the cause of the disorder.
  • Outlines common complications such as cervical cord compression, hearing loss, and thoracolumbar gibbosity.

Conclusions:

  • Achondroplasia requires a proactive, multidisciplinary approach for optimal patient outcomes.
  • Early identification and management of complications are essential for preventing long-term health issues.
  • Comprehensive care, including psychosocial support and professional integration, significantly improves the overall quality of life for individuals with achondroplasia.