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Title: Brain anomalies in velo-cardio-facial syndrome

Abstract

Magnetic resonance imaging of the brain in 11 consecutively referred patients with velo-cardio-facial syndrome (VCF) showed anomalies in nine cases including small vermis, cysts adjacent to the frontal horns, and small posterior fossa. Focal signal hyperintensities in the white matter on long TR images were also noted. The nine patients showed a variety of behavioral abnormalities including mild development delay, learning disabilities, and characteristic personality traits typical of this common multiple anomaly syndrome which has been related to a microdeletion at 22q11. Analysis of the behavorial findings showed no specific pattern related to the brain anomalies, and the patients with VCF who did not have detectable brain lesions also had behavioral abnormalities consistent with VCF. The significance of the lesions is not yet known, but the high prevalence of anomalies in this sample suggests that structural brain abnormalities are probably common in VCF. 25 refs.

Authors:
; ;  [1]
  1. Albert Einstein College of Medicine, Bronx, NY (United States)
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
91090
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 54; Journal Issue: 2; Other Information: PBD: 15 Jun 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; MENTAL DISORDERS; NERVOUS SYSTEM DISEASES; HUMAN CHROMOSOME 22; GENETIC MAPPING; BRAIN; NMR IMAGING

Citation Formats

Mitnick, R J, Bello, J A, and Shprintzen, R J. Brain anomalies in velo-cardio-facial syndrome. United States: N. p., 1994. Web. doi:10.1002/ajmg.1320540204.
Mitnick, R J, Bello, J A, & Shprintzen, R J. Brain anomalies in velo-cardio-facial syndrome. United States. https://doi.org/10.1002/ajmg.1320540204
Mitnick, R J, Bello, J A, and Shprintzen, R J. 1994. "Brain anomalies in velo-cardio-facial syndrome". United States. https://doi.org/10.1002/ajmg.1320540204.
@article{osti_91090,
title = {Brain anomalies in velo-cardio-facial syndrome},
author = {Mitnick, R J and Bello, J A and Shprintzen, R J},
abstractNote = {Magnetic resonance imaging of the brain in 11 consecutively referred patients with velo-cardio-facial syndrome (VCF) showed anomalies in nine cases including small vermis, cysts adjacent to the frontal horns, and small posterior fossa. Focal signal hyperintensities in the white matter on long TR images were also noted. The nine patients showed a variety of behavioral abnormalities including mild development delay, learning disabilities, and characteristic personality traits typical of this common multiple anomaly syndrome which has been related to a microdeletion at 22q11. Analysis of the behavorial findings showed no specific pattern related to the brain anomalies, and the patients with VCF who did not have detectable brain lesions also had behavioral abnormalities consistent with VCF. The significance of the lesions is not yet known, but the high prevalence of anomalies in this sample suggests that structural brain abnormalities are probably common in VCF. 25 refs.},
doi = {10.1002/ajmg.1320540204},
url = {https://www.osti.gov/biblio/91090}, journal = {American Journal of Medical Genetics},
number = 2,
volume = 54,
place = {United States},
year = {Wed Jun 15 00:00:00 EDT 1994},
month = {Wed Jun 15 00:00:00 EDT 1994}
}