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2014, Number 2

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Rev Méd Electrón 2014; 36 (2)

Treacher-Collin syndrome. Presentation of a case

Pollo MJM, Álvarez EMC, Torres ÁAY, Placeres HJF, Morales CD
Full text How to cite this article

Language: Spanish
References: 9
Page: 211-216
PDF size: 425.86 Kb.


Key words:

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.


REFERENCES

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  2. Pérez Valdés N, Menéndez García R, Acosta Díaz R, Pérez González Y. Presentación de un caso con Síndrome Treacher Collins. Gac Méd Espirituana [Internet]. 2007 [2 Nov 2013]; 9(3): Disponible en: http://bvs.sld.cu/revistas/gme/pub/vol.9.%283%29_19/p19.html

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Rev Méd Electrón. 2014;36