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

Mental retardation and osteosclerosis.

A G Hunter, R I Macpherson

American Journal of Medical Genetics

|January 1, 1978

Summary

This summary is machine-generated.

This study describes a rare case of progressive osteosclerosis in a young girl with profound mental retardation. The observed bone changes presented unique features distinct from typical osteopetrosis.

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

Same journal

Abstracts for the Xth World Congress of Psychiatric Genetics. Brussels, Belgium, 9-13 October 2002.

American journal of medical genetics·2003

Same journal

Defects of blastogenesis.

American journal of medical genetics·2002

Same journal

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Same journal

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Same journal

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Same journal

Status of the human malformation map: 2002.

American journal of medical genetics·2002

See all related articles

Area of Science:

Pediatric Radiology
Skeletal Dysplasias
Genetics

Background:

Progressive osteosclerosis is a rare skeletal disorder characterized by increased bone density.
Osteopetrosis is a group of genetic disorders causing impaired osteoclast function and bone resorption.

Observation:

A 3-year-old girl with profound mental retardation exhibited progressive osteosclerosis on bone roentgenograms.
The patient's bony changes showed features atypical for osteopetrosis.

Findings:

The case presents a unique manifestation of osteosclerosis with unusual radiological features.
Differential diagnosis from common osteopetrosis subtypes is crucial due to distinct characteristics.

Implications:

Related Experiment Videos

This case highlights the importance of detailed radiological analysis in diagnosing rare skeletal disorders.

Further research may elucidate novel genetic or metabolic pathways involved in osteosclerosis.