Resumo

POLLO MEDINA, Jesús Manuel et al. Treacher-Collin syndrome. Presentation of a case. Rev. Med. Electrón. [online]. 2014, vol.36, n.2, pp. 211-216. ISSN 1684-1824.

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.

Palavras-chave : treacher-Collins Syndrome; mandibular-facial dysostosis; congenital malformations.

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