Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Pleiotropy

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,...

Bone Formation by Endochondral Ossification

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 Ossification

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 ...

Development of the Limb Synovial Joints

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...

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

Multiple Allele Traits

Multiple Allele Traits

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Reply to Letter Regarding "Comparison of Cutibacterium Avidum Versus Acnes in Periprosthetic Hip Infections: A Matched Cohort Analysis".

The Journal of arthroplasty·2026

Same author

Pre- and Postoperative Alignment of the Knee Impacts Ankle Alignment: Analysis of 4,698 Total Knee Arthroplasties.

The Journal of arthroplasty·2026

Same author

Geographical Differences in the Epidemiology and Treatment of Candida Prosthetic Joint Infections.

Open forum infectious diseases·2026

Same author

Cyclin-dependent kinase 10 controls bone formation and is linked to human skeletal health.

Journal of orthopaedic translation·2026

Same author

The Role of Positive <i>Klebsiella</i> Culture in Revision Hip and Knee Arthroplasty.

Pathogens (Basel, Switzerland)·2026

Same author

Beyond Gram-Negative and Gram-Positive Bacteria: Virulence as a Determinant of Clinical Outcome in Periprosthetic Joint Infections.

The Journal of arthroplasty·2026

Search research articles

Related Experiment Video

Updated: Mar 17, 2026

Direct Mouse Trauma/Burn Model of Heterotopic Ossification

Direct Mouse Trauma/Burn Model of Heterotopic Ossification

Published on: August 6, 2015

Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?

Ali Al Kaissi¹, Maher Ben Ghachem², Farid Ben Chehida³

¹Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria; Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.

Journal of Clinical Medicine Research

|July 19, 2016

Summary

This study investigates a family with variable skeletal conditions, including short stature, mesomelic dysplasia resembling Leri-Weill dyschondrosteosis syndrome, and multiple exostoses. The findings highlight the diverse phenotypic expression of these genetic bone disorders.

Keywords:

Array-CGH-analysis Exostoses Mesomelia No SHOX deletions

More Related Videos

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

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

Published on: December 3, 2016

Three-Dimensional Bone Extracellular Matrix Model for Osteosarcoma

Three-Dimensional Bone Extracellular Matrix Model for Osteosarcoma

Published on: April 12, 2019

Related Experiment Videos

Last Updated: Mar 17, 2026

Direct Mouse Trauma/Burn Model of Heterotopic Ossification

Direct Mouse Trauma/Burn Model of Heterotopic Ossification

Published on: August 6, 2015

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

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

Published on: December 3, 2016

Three-Dimensional Bone Extracellular Matrix Model for Osteosarcoma

Three-Dimensional Bone Extracellular Matrix Model for Osteosarcoma

Published on: April 12, 2019

Area of Science:

Genetics
Orthopedics
Medical Genetics

Background:

Investigated an unusual combination of short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostoses in a multigenerational family.
Observed autosomal dominant inheritance pattern for these skeletal anomalies.

Purpose of the Study:

To characterize the variable skeletal manifestations within a North African family.
To differentiate between Leri-Weill dyschondrosteosis syndrome and multiple exostoses, and their potential overlap.

Main Methods:

Clinical and radiological assessment of 21 affected family members across three generations.
Genetic analysis including Array-CGH and SHOX gene deletion testing for specific subjects.

Main Results:

Three subjects presented with short stature and mesomelic dysplasia resembling Leri-Weill dyschondrosteosis syndrome.
Multiple exostoses were observed in other family members, often with normal height.
Genetic testing excluded chromosomal aberrations and SHOX deletions in key subjects.

Conclusions:

Described a family with mesomelic dysplasia and multiple exostoses, exhibiting variable phenotypic expression.
Highlighted the diagnostic challenges and potential overlap between Leri-Weill dyschondrosteosis syndrome and multiple exostoses.
Emphasized the importance of careful clinical and radiological evaluation in diagnosing complex skeletal dysplasias.