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

Metachondromatosis

A G Hunter¹, K Kozlowski, O Hochberger

¹Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa.

Canadian Association of Radiologists Journal = Journal L'Association Canadienne Des Radiologistes

|June 1, 1995

Summary

This summary is machine-generated.

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

Atypical copper poisoning in Jersey dairy herds.

The Veterinary record·2013

Same author

Mortality, hepatopathy and liver copper concentrations in artificially reared Jersey calves before and after reductions in copper supplementation.

The Veterinary record·2012

Same author

Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour.

European journal of medical genetics·2010

Same author

A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.

Journal of medical genetics·2004

Same author

Ethical, legal, and practical concerns about recontacting patients to inform them of new information: the case in medical genetics.

American journal of medical genetics·2001

Same author

Low rate of adequate folic acid supplementation in well-educated women of high socioeconomic status attending a genetics clinic.

CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne·2001

Metachondromatosis, a rare bone dysplasia, can be misdiagnosed as multiple osteochondromatosis. Distinctive vertebral and metaphyseal changes, including femoral head flattening and necrosis, are key diagnostic features.

Area of Science:

Skeletal dysplasias
Pediatric radiology
Orthopedic pathology

Background:

Metachondromatosis is a rare generalized bone dysplasia.
It is often misdiagnosed as multiple osteochondromatosis.
Radiographic findings can aid in differentiating metachondromatosis.

Observation:

Five pediatric cases with diverse international origins were analyzed.
Detailed clinical and radiographic data were collected.
Imaging was performed at various childhood ages.

Findings:

Distinctive vertebral deformities and punctate calcification were noted.
Widespread metaphyseal changes, particularly in the femoral necks, were observed.
Femoral head flattening, progressing to avascular necrosis and coxa magna in one case, was seen.

Related Experiment Videos

Implications:

Metachondromatosis primarily affects tubular bones, with variable involvement of flat bones and the spine.
Complications include avascular necrosis of the femoral head and progressive joint deformities.
Hand and foot involvement, typical in some cases, may be absent.