References

DIAGNOSIS

  1. Kubo, S., Horinouchi, T., Kinoshita, M., Yoshizato, T., Kozuma, Y., Shinagawa, T., & Ushijima, K. (2019). Visual diagnosis in utero: Prenatal diagnosis of Treacher-Collins syndrome using a 3D/4D ultrasonography. Taiwanese Journal of Obstetrics and Gynecology, 58(4), 566–569. https://doi.org/10.1016/j.tjog.2019.05.024
  2. Yates, D. M., & Markiewicz, M. R. (2022). Craniofacial Microsomia and Treacher Collins Syndrome. Springer Nature.
  3. Aljerian, A., & Gilardino, M. S. (2019). Treacher Collins Syndrome. Clinics in Plastic Surgery, 46(2), 197–205. https://doi.org/10.1016/j.cps.2018.11.005



TCS GENETICS

Trainor, P. A. (2008, December 24). Treacher Collins syndrome: etiology, pathogenesis and prevention. Nature. https://www.nature.com/articles/ejhg2008221?error=cookies_not_supported&code=23e28253-ef60-4ebd-a0c5-fc73e89525bf TCOF1 gene: MedlinePlus Genetics. (n.d.). https://medlineplus.gov/genetics/gene/tcof1/




CLINICAL FEATURES

1- Ricalde, P. (2022). Associated Systemic Health Conditions Associated with Treacher Collins Syndrome. In I. Ahson (Ed.), Craniofacial Microsomia and Treacher Collins Syndrome (pp. 325–335). essay, Springer.



2- Fuente, K., & Bright, K. (2022). A Look at Breathing, Feeding, and Speech Problems in Patients with Treacher Collins Syndrome. In Craniofacial Microsomia and Treacher Collins Syndrome (pp. 311–323). essay, Springer.



3- Smith, F. (2022). Etiology and Anatomical Variation in Treacher Collins Syndrome. In Craniofacial Microsomia and Treacher Collins Syndrome (pp. 285–296). essay, Springer.



4- Goncalves, P., Edwards, S., & Aronovich, S. (2022). Initial Evaluation of a Patient with Treacher Collins Syndrome. In Craniofacial Microsomia and Treacher Collins Syndrome (pp. 297–309). essay, Springer.




RADIOGRAPHIC FINDINGS:


  1. Yagel S, Cohen SM, Messing B, Valsky DV. Three-dimensional and fourdimensional ultrasound applications in fetal medicine. Curr Opin Obstet Gynecol 2009;21:167e74.
  2. Merz E, Abramowicz JC. 3D/4D ultrasound in prenatal diagnosis: is it time for routine use? Clin Obstet Gynecol 2012;55:336e51.
  3. Johnson JM, Moonis G, Green GE et-al. Syndromes of the First and Second Branchial Arches, Part 2: Syndromes. American Journal of Neuroradiology. 2010
  4. Themes, U. (2015, December 21). 13 Lateral Facial Dysplasias: Treacher Collins Syndrome. Radiology Key. https://radiologykey.com/13-lateral-facial-dysplasias-treacher-collins-syndrome/
  5. https:\/\/syndromepictures.com\/author\/rajeshm6\/#author. (2011, October 19). Treacher Collins Syndrome Pictures - Syndrome Pictures. Syndrome Pictures - Just Another WordPress Site. https://syndromepictures.com/treacher-collins-syndrome-pictures/
  6. F, G. (2022, November 18). Treacher collins sybdrome, case study . Radiopaedia Blog RSS. Retrieved from https://radiopaedia.org/
  7. Treacher Collins Syndrome, case study . Radiopaedia Blog RSS. (n.d.). Retrieved from https://radiopaedia.org/
  8. P., R. K., G., N., P., R. S., P., S. C., & Krishna Prasad, L. (2016). An unusual anterior dislocation of fractured mandibular condyle leading to psuedo-ankylosis in a 8 yr old child—A distinct case report. International Journal of Surgery Case Reports, 26, 34–37. https://doi.org/10.1016/j.ijscr.2016.07.011
  9. Alexander, H., Dowlati, E., McGowan, J. E., Mason, R. B., & Anaizi, A. (2019, January 16). C2–C3 spinal fracture subluxation with ligamentous and vascular injury: a case report and review of management - Spinal Cord Series and Cases. Nature. https://doi.org/10.1038/s41394-019-0150-7



TREATMENT AND MANAGEMENT:


Treatment Recommendations for the Treacher Collins Syndrome Patient: Yates, D. M., & Markiewicz, M. R. (2022a). Craniofacial Microsomia and Treacher Collins Syndrome (Vol. 1). Springer Nature.

Management of the Mandibular Deformity in the children with Craniofacial Microsomia: Yates, D. M., & Markiewicz, M. R. (2022a). Craniofacial Microsomia and Treacher Collins Syndrome (Vol. 4). Springer Nature.

Definitive Correction of Associated Maxillomandibular Deformities in Treacher Collins Syndrome: Yates, D. M., & Markiewicz, M. R. (2022a). Craniofacial Microsomia and Treacher Collins Syndrome (Vol. 6). Springer Nature.

CORRECTION AND RHINOPLASTY:
10-Nikkhah D, Ponniah A, Ruff C, Dunaway D. A classification system to guide orbitozy- gomatic reconstruction in Treacher-Collins syndrome. J Plast Reconstr Aesthet Surg. 2013;66(7):1003-5.

30. Mommaerts MY, Abeloos JV, De Clercq CA, Neyt LF. The 'sandwich' zygomatic osteotomy:

31. Layoun W, Guyot L, Richard O, Gola R. Augmentation of cheek bone contour using malar osteotomy. Aesthet Plast Surg. 2003;27(4):269-74.




Rosa F, Coutinho MB, Ferreira JP, Sousa CA. Ear malformations, hearing loss and hear- ing rehabilitation in children with Treacher Collins syndrome. Acta Otorrinolaringol Esp. 2016;67:142–7.

Brent B. Microtia repair with rib cartilage grafts: a review of personal experience with 1000 cases. Clin Plast Surg. 2002;29(2):257–71, vii. https://doi.org/10.1016/s0094-1298(01)00013-x.



ORBITAL DEFORMITIES, TMJ PROSTHESIS AND ORTHODONTIC MANAGEMENT:

1-Wandell, A., Perez, D., Liddell, A. (2022). TMJ Total Joint Prosthesis in Treacher Collins Syndrome and Hemifacial Microsomia. In: Yates, D.M., Markiewicz, M.R. (eds) Craniofacial Microsomia and Treacher Collins Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-030-84733-3_20

2- Francis, A., Andhole, S., Harshbarger, R., Kelley, P., Amato, M.M. (2022). Ophthalmologic Findings and Reconstruction of Soft Tissue Orbital Deformities: Coloboma and Eyelid Deformities. In: Yates, D.M., Markiewicz, M.R. (eds) Craniofacial Microsomia and Treacher Collins Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-030-84733-3_17

3-Allareddy, V., Maclaine, J., Elnagar, M.H. (2022). Principles of Orthodontic Management of Treacher Collins Syndrome. In: Yates, D.M., Markiewicz, M.R. (eds) Craniofacial Microsomia and Treacher Collins Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-030-84733-3_22



CASE REPORT



Mohan RP, Verma S, Agarwal N, Singh U. Treacher Collins syndrome: A case report. BMJ Case Rep 2013;2013:bcr2013009341.