Treacher-Collin syndrome. Presentation of a case

Authors

  • Jesús Manuel Pollo Medina Hospital Provincial Ginecobstétrico Docente Julio Alfonso Medina. Matanzas
  • María del Carmen Álvarez Escobar Hospital Provincial Ginecobstétrico Docente Julio Alfonso Medina. Matanzas
  • Arling Yuliett Torres Álvarez Hospital Provincial Ginecobstétrico Docente Julio Alfonso Medina. Matanzas
  • José Fernando Placeres Hernández Universidad de Ciencias Médicas de Matanzas. Matanzas
  • Dimas Morales Carbot Hospital Universitario Clínico Quirúrgico Comandante Faustino Pérez Hernández. Matanzas

Keywords:

treacher-Collins Syndrome, mandibular-facial dysostosis, congenital malformations

Abstract

Treacher-Collin syndrome, also known as Berry-Franceschetti-Klein or Franceschetti-Zwahlen-Klein, mandibulo-facial dysostosis or first arc syndrome, is a dominant autosomic disorder of the craniofacial development and may have innumerous clinical manifestations. In the case we present with this syndrome, we observed multiple craniofacial malformations, and also a severe scoliosis, external auditive duct atresia, bilateral preauricular papilomas and right hand pre axial polydactilia.

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How to Cite

1.
Pollo Medina JM, Álvarez Escobar M del C, Torres Álvarez AY, Placeres Hernández JF, Morales Carbot D. Treacher-Collin syndrome. Presentation of a case. Rev Méd Electrón [Internet]. 2014 Apr. 9 [cited 2025 May 9];36(2):211-6. Available from: https://revmedicaelectronica.sld.cu/index.php/rme/article/view/1068

Issue

Vol. 36 No. 2 (2014)

Section

Presentation of cases

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