Setleis syndrome: Genetic and clinical findings in a new case with epilepsy

Lucio Giordano, Robert J. Desnick, Anna Molinaro, Vera Uliana, Francesca Forzano, Lisa Edelmann, Irene Nazarenko, Lorenzo Pinelli, Patrizia Accorsi, Francesca Faravelli

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Background Focal facial dermal dysplasias are a group of inherited ectodermal disorders characterized by congenital bitemporal or periauricular scar-like depressions as well as other facial and nonfacial developmental defects. Four subtypes have been delineated, and mutations in the TWIST2 gene have been identified in type III focal facial dermal dysplasia (Setleis syndrome). Patients We describe a sporadic patient with the hallmark bitemporal scar-like lesions, severe intellectual disability, and focal epilepsy. Results The boy has typical features of Setleis syndrome, and he developed focal epilepsy, a previously unreported feature of this syndrome. No mutations in the TWIST2 gene were found, and there were no pathologic copy number abnormalities. Conclusions Epilepsy could represent a new manifestation, and the patient described broadens the spectrum of clinical features associated with Setleis syndrome, including central nervous system involvement.

Original languageEnglish
Pages (from-to)389-391
Number of pages3
JournalPediatric Neurology
Issue number4
StatePublished - Apr 2014


  • Setleis syndrome
  • TWIST2 gene
  • developmental delay
  • epilepsy
  • focal facial dermal dysplasias


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