Revista Médica Electrónica
ISSN 1684-1824
POLLO MEDINA, Jesús Manuel et al. Treacher-Collin syndrome. Presentation of a case. []. , 36, 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.
: treacher-Collins Syndrome; mandibular-facial dysostosis; congenital malformations.