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

Cerebral malformations in Carpenter syndrome

S Taravath¹, J H Tonsgard

¹Department of Pediatrics, Pritzker Medical School, University of Chicago, Illinois.

Pediatric Neurology

|May 1, 1993

Summary

Carpenter syndrome, a craniosynostosis disorder, can cause intellectual impairment. Brain imaging may help predict cognitive outcomes in affected individuals, even when mental retardation is not always present.

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

Late-onset neurofibromatosis in a liver transplant recipient.

International journal of dermatology·2000

Same author

A child with neurofibromatosis-1 and a lumbar epidural arteriovenous malformation.

Journal of child neurology·2000

Same author

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.

American journal of medical genetics·1999

Same author

CT imaging in adults with neurofibromatosis-1: frequent asymptomatic plexiform lesions.

Neurology·1998

Same author

Omega-oxidation of monocarboxylic acids in rat brain.

Neurochemical research·1998

Same author

Do NF1 gene deletions result in a characteristic phenotype?

American journal of medical genetics·1998

Area of Science:

Genetics and Developmental Biology
Neuroscience
Medical Imaging

Background:

Inherited craniosynostosis syndromes are classified into four main groups based on associated anomalies.
Carpenter syndrome (Acrocephalopolysyndactyly) is characterized by craniosynostosis and multiple other physical abnormalities.
The underlying causes of intellectual impairment in Carpenter syndrome remain largely unexplored.

Observation:

A case of Carpenter syndrome is presented with severe developmental delay.
Cerebral malformations were identified in the patient using magnetic resonance imaging (MRI) and computed tomography (CT).
Intellectual impairment is not a universal feature across all craniosynostosis syndromes.

Findings:

The reported patient with Carpenter syndrome exhibited profound developmental delay and significant cerebral malformations.
Neuroradiologic findings correlated with the patient's severe cognitive deficits.

Implications:

Cranial vault abnormalities and intellectual disability in craniosynostosis syndromes may be linked to underlying cerebral malformations.
Neuroimaging, including MRI and CT scans, can be a valuable tool for assessing and potentially predicting intellectual outcomes in patients with craniosynostosis.
Further research into the neurobiological basis of cognitive impairment in these genetic disorders is warranted.

Related Experiment Videos