Eight patients with Williams syndrome and craniosynostosis

Kimiko Ueda; Junji Yamada; Osamu Takemoto; Nobuhiko Okamoto

doi:10.1016/j.ejmg.2015.05.002

Eight patients with Williams syndrome and craniosynostosis

Eur J Med Genet. 2015 Jun-Jul;58(6-7):355-7. doi: 10.1016/j.ejmg.2015.05.002. Epub 2015 May 20.

Authors

Kimiko Ueda¹, Junji Yamada², Osamu Takemoto², Nobuhiko Okamoto³

Affiliations

¹ Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. Electronic address: kimi-h-u@mch.pref.osaka.jp.
² Department of Neurosurgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
³ Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.

PMID: 26002408
DOI: 10.1016/j.ejmg.2015.05.002

Abstract

Williams syndrome (WS) is a well-known genetic syndrome caused by a microdeletion on chromosome 7q11.23 encompassing the elastin gene. It is characterized by distinctive facies, congenital cardiovascular malformations, intellectual disabilities, and various other manifestations. Some patients were reported with craniosynostosis. Here, we report 8 WS cases diagnosed with craniosynostosis using three-dimensional cranial computed tomography. These findings suggest that craniosynostosis may occur more frequently in WS patients than expected.

Keywords: Craniosynostosis; Scaphocephaly; Three-dimensional cranial computed tomography; Williams syndrome.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Brain / pathology
Child
Child, Preschool
Craniosynostoses / diagnosis*
Craniosynostoses / genetics
Female
Humans
Male
Tomography, X-Ray Computed
Williams Syndrome / diagnosis*
Williams Syndrome / genetics