Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: Case report

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Dinlen N., Zenciroǧlu A., Dilli D., Aydın B., Beken S., Okumuş N.

Genetic Counseling, vol.25, no.1, pp.7-11, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 1
  • Publication Date: 2014
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.7-11
  • Keywords: Mandibulofacial dysostosis, Treacher Collins syndrome, Paroxetine
  • Lokman Hekim University Affiliated: No


Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development with an incidence of 1 in 40 000 to in 70 000 live births. It is characterized by abnormalities of the pinnae which are frequently associated with atresia of the external auditory canals and anomalies of the middle ear ossicles. Rarely congenital heart defects can be present. Prenatal paroxetine exposure may enhance the risks of major malformation, particularly cardiac defects. This article reports a newborn, whose mother used paroxetine during pregnancy, presenting with multiple congenital heart defects associated to typical physical characteristics of Treacher Collins syndrome.