Síndrome Treacher-Collins. Presentación de caso / Treacher-Collins Syndrome. Case presentation
Rev cien med habana
; 21(2)may.-ago. 2015. ilus
Article
in Spanish
| CUMED
| ID: cum-66853
Responsible library:
CU427.1
Localization: Cu427.1
RESUMEN
El Síndrome Treacher-Collins es un trastorno craneofacial congénito que se produce por la mutación del gen TCOF1, localizado en el cromosoma 5q31-33. Se caracteriza por malformaciones mandibulofaciales, donde se destacan la micrognatia severa, macrostomia y microtia de grado variable. La forma de herencia predominante es la autosómico dominante, aunque se han reportado casos autosómicos recesivos y mutaciones de novo. Se presenta este caso teniendo en cuenta lo poco frecuente de este síndrome malformativo, con el objetivo de destacar la importancia del método clínico como forma de diagnóstico eficaz, al presentarse un recién nacido con malformaciones severas es necesario diagnosticar oportunamente la afección que presenta para ejecutar intervención multidisciplinaria que requiera y brindar un adecuado asesoramiento genético a la familia(AU)
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(AU)
Full text:
Available
Collection:
National databases
/
Cuba
Database:
CUMED
Main subject:
Zygoma
/
Craniofacial Abnormalities
/
Mandibulofacial Dysostosis
Type of study:
Practice guideline
Limits:
Infant, Newborn
Language:
Spanish
Journal:
Rev cien med habana
Year:
2015
Document type:
Article
Institution/Affiliation country:
Centro Provincial de Genética Médica/Cuba