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  • Title: Eight patients with Williams syndrome and craniosynostosis.
    Author: Ueda K, Yamada J, Takemoto O, Okamoto N.
    Journal: Eur J Med Genet; 2015; 58(6-7):355-7. PubMed ID: 26002408.
    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.
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