Williams-Beuren Syndrome with Brain Dysplasia

J Gordon Millichap

doi:10.15844/pedneurbriefs-27-10-7

Williams-Beuren Syndrome with Brain Dysplasia

Pediatric Neurology Briefs

Volume 27 (2013): Issue 10

By: J Gordon Millichap

Open Access

|Oct 2013

Abstract

Investigators from Jichi and Yokohama City Universities, Japan, report a patient with the common Williams-Beuren syndrome (WBS) deletion in 7q11.23 who presented with severe cerebral and cerebellar dysplasia and progressive hypertrophic cardiomyopathy.

References

Okamoto N Yamagata T Yada Y Ichihashi K Matsumoto N Momoi MY Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy Brain Dev 2014 Jun 36 6 523 7 10.1016/j.braindev.2013.07.002 23899771
Open DOI Search in Google Scholar Back to article
Bellugi U Bihrle A Jernigan T Trauner D Doherty S Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome Am J Med Genet 1990 37 6 115 25 10.1002/ajmg.1320370621 2144426
Open DOI Search in Google Scholar Back to article
Millichap JG Neurological Syndromes 2013 279 Springer New York 10.1007/978-1-4614-7786-0
Open DOI Search in Google Scholar Back to article

Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-27-10-7 | Journal eISSN: 2166-6482

Journal RSS Feed

Language: English

Page range: 78 - 79

Published on: Oct 1, 2013

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Williams-Beuren Syndrome,

Facial Characteristics,

Neurologic Symptoms

© 2013 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 27 (2013): Issue 10