Santana HEE, Tamayo CVJ

Language: Spanish
References: 10
Page: 463-468
PDF size: 211.89 Kb.

ABSTRACT

Treacher-Collins Syndrome is a craneal facial congenital disorder that is produced by the mutation of the TCOF1 gen, localized in the 5q31-33 chromosome. It is characterized by mandibular facial malformations, where severe micrognaty, macrostomy and microty of variable grade are relevant. The predominant inherited way is the dominant autonomics, although autonomics recessive cases and novo mutations have been reported. This case is presented taking into consideration that this malformation syndrome is not frequent, with the objective to emphasize the importance of the clinical method as a good diagnostic way, when a newborn was presented with severe malformations it is necessary to diagnose the affection that he/she presents early to execute the required multidisciplinary intervention and give an adequate genetic recommendation to the family.

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