Vol. 4 No. 1 (2021): American Journal of Surgical Research and Reviews

New Trends In Treacher Collins Syndrome: Bony Reconstruction And Regenerative Therapy

Luigi Clauser1, Chiara Gardin2, Letizia Ferroni2, Antonio Lucchi1, Carolina Sannino1, Maria Elena de Notariis1 and Barbara Zavan2
1Unit of Maxillo-Facial Surgery, Istituto Stomatologico Italiano, Via Pace, 21, 20122 Milano, Italy; 2 Department of Biomedical Sciences, University of Padova, 35100 Padova, Italy


  • Craniofacial surgery,Treacher Collins syndrome, regenerative medicine, structural fat grafting, adipose-derived stem cells, gene expression; array-CGH,tissue engineering

How to Cite

Luigi Clauser1, Chiara Gardin2, Letizia Ferroni2, Antonio Lucchi1, Carolina Sannino1, Maria Elena de Notariis1 and Barbara Zavan2. (2021). New Trends In Treacher Collins Syndrome: Bony Reconstruction And Regenerative Therapy. American Journal of Surgical Research and Reviews, 4(1), 22. https://doi.org/10.28933/ajsrr-2021-05-3106


Aim:Treacher Collins syndrome is a rare congenital disorder of craniofacial development with a highly variable pheonotype. This syndrome occurs with an incidence of 1:50,000, and more than 60% of the cases have no previous family history and arise as the result of de novo mutations. The disorder displays an intricate underlying dysmorphology. Affected patients may suffer life-threatening airway complications and functional difficulties involving sight, hearing, speech, and feeding. Deformation of facial structures produces a characteristic appearance that includes malar-zygomatic hypoplasia, periorbital soft tissue anomalies, maxillomandibular hypoplasia, and ear anomalies. Management requires a specialized craniofacial team, as comprehensive care starts at birth and may require life-long follow-up. Standard craniofacial procedures for bony and soft tissue reconstruction are used. This article outlines current treatment strategies and future concepts for surgical and regenerative management.

Methods:The new field of regenerative medicine and therapy offers the promise to improve some of these treatments. In particular, Structural Fat Grafting (lipostructure) seems to be a good strategy to restore the normal volume and contour of the face, and to provide a source of adipose-derived stem cells (ADSCs) with a multilineage differentiation potential. In this work, we present the case of a young girl with Treacher Collins Syndrome who underwent serial sessions of fat grafting in addition to other surgical bony reconstructive techniques. ADSCs have been isolated from the patient’s lipoaspirate, and compared for their stemness properties with those of a healthy subject.

Conclusion:Screening of the genome of the Treacher Collins patient using array-Comparative Genomic Hybridization (array-CGH) allowed us to identify some chromosomal imbalances that are probably associated with the syndrome.Correction of these imbalances and asymmetries by modulating ADSCs could be an innovative approach to improve and stabilize the results of the surgical treatment of Treacher Collin Syndrome.



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