| Brain anomalies in velo-cardio-facial syndrome. | |
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MedLine Citation:
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PMID: 8074159 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Magnetic resonance imaging of the brain in 11 consecutively referred patients with velo-cardiofacial 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 developmental 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 behavioral 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. |
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Authors:
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R J Mitnick; J A Bello; R J Shprintzen |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 54 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1994 Jun |
Date Detail:
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Created Date: 1994-09-29 Completed Date: 1994-09-29 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 100-6 Citation Subset: IM |
Affiliation:
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Department of Radiology, Montefiore Medical Center, Bronx, New York. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology* Adolescent Adult Brain / abnormalities* Child Chromosomes, Human, Pair 22 Face / abnormalities Female Heart Defects, Congenital / pathology Humans Magnetic Resonance Imaging Male Syndrome |
| Comments/Corrections | |
Comment In:
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Am J Med Genet. 1995 Apr 24;60(2):174-5
[PMID:
7485256
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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