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

Search research articles

Related Experiment Videos

[Familial multiple exostoses]

P Kotyla¹, A Kotulska, E J Kucharz

¹IV Katedry i Kliniki Chorób Wewnetrznych Sl. Ak. Med. w Katowicach.

Wiadomosci Lekarskie (Warsaw, Poland : 1960)

|April 1, 1994

Summary

This study reports a rare genetic disorder, multiple osteochondral exostoses, in a father and his two sons. The condition affected their long bones and caused significant joint movement impairment.

Related Concept Videos

You might also read

Related Articles

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

Sort by

Same author

Psychological care over patients with lymphoma and lymphoma survivors.

European review for medical and pharmacological sciences·2023

Same author

Significance of the angiotensin I/angiotensin II/angiotensin-(1-7) axis in the pathogenesis of systemic sclerosis.

Journal of the European Academy of Dermatology and Venereology : JEADV·2019

Same author

Serum cystatin C level in patients with rheumatoid arthritis after single infusion of infliximab.

Rheumatology international·2010

Same author

Characteristics of joint involvement and relationships with systemic inflammation in systemic sclerosis: results from the EULAR Scleroderma Trial and Research Group (EUSTAR) database.

The Journal of rheumatology·2010

Same author

Who might be predisposed to the development of serious side effects when treated with TNF-alpha antagonist?

Clinical and experimental rheumatology·2006

Same author

Serum lipid profile in patients with systemic sclerosis: relationship to the thyreometabolic state.

Rheumatology international·2005

Area of Science:

Orthopedics
Genetics
Medical Case Reports

Background:

Multiple osteochondral exostoses (MOE) is a rare inherited skeletal dysplasia.
MOE is characterized by the development of multiple benign bone tumors (osteochondromas).

Observation:

A case study involving a father and his two sons presenting with MOE.
The affected individuals exhibited osteochondromas primarily on the long bones.
Impaired joint movements were a significant clinical manifestation in all affected family members.

Findings:

The family pedigree suggests an autosomal dominant inheritance pattern for MOE.
Radiographic evidence confirmed the widespread presence of osteochondromas.
Clinical assessment revealed limitations in range of motion in multiple joints.

Implications:

This case highlights the phenotypic variability and genetic transmission of multiple osteochondral exostoses.
Understanding the genetic basis and clinical presentation is crucial for diagnosis and management.
Further research into MOE pathogenesis may inform therapeutic strategies for skeletal dysplasias.

Related Experiment Videos