Solís AL, Agramonte CI

Language: Spanish
References: 28
Page: 408-417
PDF size: 255.09 Kb.

ABSTRACT

Introduction: Treacher Collins syndrome is a genetic disorder of craniofacial development, characterized by a bilateral symmetrical otomandibular dysplasia associated with various abnormalities of the head and neck, with no extremities affection. Its clinical expression is very variable, with a range of occurrence between 1 in 25,000 and 1 in 70,000 live births. Only were found two cases after a review of national published literature, one in 1962 and the other one in 2007; no report of incidence on Cuban families was found.
Objective: To present a case study of a Cuban family with Treacher Collins syndrome.
Case presentation: Male patient 22 year old with father and sister afflicted with Treacher Collins syndrome, arriving to a consulting room seeking for an aesthetic treatment. After physical examination was confirm a typical facial dimorphism consisting of: downward slant palpebral fissures, microphthalmia, orbital edge depression, hypoplasia and ears low implantation, micrognathia, facial soft tissue hypoplasia and absence of eyelashes in the inferior lids external third. Patient extremities, weight and mouth opening showed no abnormalities. These malformations were confirmed by means of a computerized tomography, also was detected an intrasellar arachnoidocele, and lack of pneumatization of mastoid and sphenoid sinus cells. Abdominal ultrasound, echocardiogram, chest and anteroposterior spine radiography were normal.
Conclusions: Although the Treacher Collins syndrome is a rare congenital disease, it is important to know it in order to make a correct and early diagnosis, bringing to the patient an opportune and multidisciplinary treatment.

REFERENCES

1. Leyva JC, Mallarino Restrepo G. Síndrome de Treacher Collins: revisión de tema y presentación de caso. Univ. Méd. 2014;55(1):64-70.

2. Bowornsilp C, Kamonwan J, Prathana C, Palakorn S. Challenges in evaluation, management and outcome of the patients with Treacher Collins syndrome. J Med Assoc Thai. 2011;94(6):S85-90.

3. León Suazo HG, Saucedo Reyes A. Síndrome de Treacher Collins. Reporte de un caso. Rev Mex Pediatr. 2010;77(4):159-163.

4. González B, Henning D, So R, Dixon J, Dixon M, Valdés B. The Treacher Collins syndrome (TCOF 1) gene product is involve in pre-rRNA methylation. Hum Mol Genet. 2005;14(14):2035-43.

5. Teber OA, Gillessen-Kaesbach G, Fischer S, Bohringer S, Albrecht B, Albert A, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 2004;12(11):879-90.

6. Pérez Valdés N, Menéndez García R, Acosta Díaz R, Pérez González Y. Presentación de un caso con Síndrome Treacher Collins. Gaceta Médica Espirituana. 2007;9(3).

7. Eduardo C, Vanier S, Didoni A, Freitas PZ, Carneiro AF, Yoshimoto F. Treacher Collins syndrome with choanal atresia: a case report and a review of its characteristics. Rev Bras Otorrinolaringol. 2005;71(1):107-10.

8. Conte CH, D'Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G. Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome. BMC Medical Genetics. 2011;12:125.

9. Beygo J, Buiting K, Seland S. First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome. Mol Syndromol. 2012;2:53-59.

10. Bowman M, Oldridge M, Archer C. Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. Eur J Hum Genet. 2012;20:769-777.

11. Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med. 2015;29:1-8.

12. Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, Van Haeringen A, Hoefsloot LH, et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011;43:20-22.

13. Schaefer E, Collet C, Genevieve D, et al. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. Genet Med. 2014;16:720-724.

14. Luquetti DV, Hing AV, Rieder MJ. Mandibulofacial dysostosis with microcephaly caused by EFTUD2 mutations: expanding the phenotype. Am J Med Genet A. 2013;161A:108-113.

15. Lines MA, Huang L, Schwartzentruber J. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet. 2012;90:369-377.

16. Vincent M, Collet C, Verloes A. Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability. Eur J Hum Genet. 2014;22:52-56.

17. Manoj K, Rakesh K, Mukesh T, Supriyo G, Jasbir K, Rima D. Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome. Case Reports in Medicine. 2011;2011:1-5.

18. Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey IP, et al. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proceed Nat Acad Sc. 2006;103(36):13403-8.

19. Zugazaga Cortázar A, Martín Martínez C. Utilidad de la resonancia magnética en el estudio prenatal de las malformaciones de la cara y el cuello. Radiología. 2012;54(5):387-400.

20. Harriet A, Britt Ø, Pamela A, Nina S, Ketil H. Obstructive sleep apnea in Treacher Collins syndrome. Eur Arch Otorhinolaryngol. 2012;269:331-7.

21. Thompson JT, Anderson PJ, David DJ. Treacher Collins syndrome: protocol management from birth to maturity. J Craniofac Surg. 2009;20(6):2028-35.

22. Shah FA, Ramakrishna S, Ingle V, Dada JE, Al Khabori M, Murty PS. Treacher Collins syndrome with acute airway obstruction. Int J Pediatr Otorhinolaryngol. 2000;54(1):41-3.

23. Prado Bernal NY, Villanueva N, Rincón H. Distracción Fuentes R, De la Cuadra JC, Lacassie H, González A. Difficult fiberoptic tracheal intubation in 1 month-old infant with Treacher Collins Syndrome. Brazilian Journal of Anesthesiology. 2015;65(4):1-4.

24. Lescano O. Caso cubano con el Síndrome de Treacher Collins. Rev Cub Cir. 1962;(3):43-49.

25. Prado Bernal NY, Villanueva N, Rincón H. Distracción osteogénica mandibular en síndrome de Nager. Reporte de un caso. Revista Mexicana de Ortodoncia. 2013;1(1):44-53.

26. Vizzuett Martínez R, Villalobos Navarro ID, Rodríguez Araiza D. Disostosis craneofacial. Síndrome de Nager. Rev Esp Méd Quir. 2013;18(1):75-78.

27. Cuesta-Moreno V, Tuesta-Da Cruz O, Silva-Albizuri C. Tratamiento multidisciplinario del Síndrome de Goldenhar. Reporte de caso. Rev. Estomatol Herediana. 2013;23(2):89-95.

28. Sevilla-Paz Soldán RM, Flores-Saavedra S, Rojas-Salazar EG. Síndrome de Pierre Robin: Reporte de un caso. Rev Méd-Cient "Luz Vida". 2013;4(1):58-62.