title: Eight patients with Williams syndrome and craniosynostosis.
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.
authors.affiliation: 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.
authors.forename: Kimiko
authors.initials: K
authors.lastname: Ueda
authors.affiliation: Department of Neurosurgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: Junji
authors.initials: J
authors.lastname: Yamada
authors.affiliation: Department of Neurosurgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Takemoto
authors.affiliation: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D014057:Tomography, X-Ray Computed; D018980:Williams Syndrome / Q000175:diagnosis* / Q000235:genetics
keywords: Craniosynostosis; Scaphocephaly; Three-dimensional cranial computed tomography; Williams syndrome