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Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations

Herlin, Christian, M.D., Ph.D.; Genevieve, David, M.D., Ph.D.; Vincent, Marie, M.D.; Chaput, Benoit, M.D.; Captier, Guillaume, M.D., Ph.D.

Plastic and Reconstructive Surgery: August 2016 - Volume 138 - Issue 2 - p 374e-376e
doi: 10.1097/PRS.0000000000002381

Department of Plastic and Craniofacial Pediatric Surgery, Department of Plastic and Reconstructive Surgery, and Department of Burns

Department of Medical Genetics CHU Lapeyronie University of Montpellier Montpellier, France

Department of Medical Genetics CHU Nantes University of Nantes Nantes, France

Department of Plastic, Reconstructive and Aesthetic Surgery Rangueil Hospital Paul Sabatier University Toulouse, France

Department of Plastic and Craniofacial Pediatric Surgery, Department of Plastic and Reconstructive Surgery, and Department of Burns CHU Lapeyronie, and Laboratory of Anatomy University of Montpellier Montpellier, France

Correspondence to Dr. Herlin, Plastic and Craniofacial Pediatric Surgery Unit, Plastic and Reconstructive Surgery and Burns Units, CHRU Montpellier, Avenue du doyen Gaston Giraud, Montpellier, France,

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We read with great interest the systematic review of the management of Treacher Collins syndrome conducted by Plomp and colleagues with the aim of providing practical recommendations.1 This broad literature review carried out by an outstanding craniofacial team allowed the authors to develop a complete algorithm of care covering most aspects of the management of this complex syndrome. However, despite its initial promise, this study does not provide an evidence-based medicine view of the current knowledge. Overall, their review appears more like a broad overview with conclusions that seem sometimes personal or based on very small series, and does not use the weight of the data from the included articles.

If the initial intention of the authors was to establish recommendations, then why not analyze and pool data from the 63 studies that they included? If the focus and level of evidence is clearly established for each included study, why have the authors not highlighted the number of patients in each study analyzed where possible? Although the data may not appear sufficient for a meta-analysis, simple averages of appropriate studies would be of great help for readers.

Indeed, as the authors emphasized, the available studies are mostly retrospective case series with small numbers of patients. Their review might also be considered incomplete, as it does not include the largest European case series of this syndrome,2 which included 146 patients and was published at the beginning of 2015. That study emphasized the lack of a genotype-phenotype correlation and the importance of screening for extrafacial features, such as cardiac malformations, which are present in 12 percent of the patients with TCOF1 mutations.

Regarding obstructive sleep apnea, the prevalence exposed is based on studies with very heterogeneous numbers of patients (five to 59), which limits the scope of the conclusions and, therefore, the recommendations. Moreover, the 23 percent incidence of cleft palate advanced by the authors is based on a single study that enrolled 10 patients, whereas the references included by the authors include broader works, such as Kobus et al. (reference 11 in the article), which includes 55 Treacher Collins syndrome patients.

Finally, concerning the authors’ conclusions regarding the calvarial bone graft resorption rate (i.e., “in almost all patients”), the series by Fan et al. (reference 59 in the article) highlights a difference in the resorption rate according to the age at which the procedure is performed, with a global resorption rate (partial and complete) of 99 percent for procedures performed too early (<5 years), 25 percent for procedures performed between 6 and 12 years, and 14 percent (0 percent complete resorption) for procedures performed after 13 years. We believe that readers would find these observations useful and that they should be incorporated into the final recommendations made by the authors. Like many other teams, we also experienced resorption rate decreasing with age that we anticipate by custom implants made by rapid prototyping3 and whose initial volume takes into account the resorption rate highlighted by some old pioneer teams (Fig. 1).

Fig. 1.

Fig. 1.

Although we want to congratulate the authors for this great review, it does not give us more recommendations than large existing series on each aspect of this complex syndrome, which reaffirms the importance of expert opinion and large case series in rare diseases when systematic reviews fail to answer specific questions.4,5

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The authors have no financial interest to declare in relation to the content of this communication.

Christian Herlin, M.D., Ph.D.Department of Plastic and Craniofacial Pediatric SurgeryDepartment of Plastic and Reconstructive Surgery, andDepartment of Burns

David Genevieve, M.D., Ph.D.Department of Medical GeneticsCHU LapeyronieUniversity of MontpellierMontpellier, France

Marie Vincent, M.D.Department of Medical GeneticsCHU NantesUniversity of NantesNantes, France

Benoit Chaput, M.D.Department of Plastic, Reconstructive and Aesthetic SurgeryRangueil HospitalPaul Sabatier UniversityToulouse, France

Guillaume Captier, M.D., Ph.D.Department of Plastic and Craniofacial Pediatric Surgery,Department of Plastic and Reconstructive Surgery, andDepartment of BurnsCHU Lapeyronie, andLaboratory of AnatomyUniversity of MontpellierMontpellier, France

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1. Plomp RG, van Lieshout MJ, Joosten KF, et al. Treacher Collins syndrome: A systematic review of evidence-based treatment and recommendations. Plast Reconstr Surg. 2016;137:191204.
2. Vincent M, Genevieve D, Ostertag A, et al. Treacher Collins syndrome: A clinical and molecular study based on a large series of patients. Genet Med. 2016;18:4956.
3. Herlin C, Doucet JC, Bigorre M, Khelifa HC, Captier G. Computer-assisted midface reconstruction in Treacher Collins syndrome part 1: Skeletal reconstruction. J Craniomaxillofac Surg. 2013;41:670675.
4. Momeni A, Wan DC. How “low-level” evidence has changed plastic surgery: Time to appreciate the value of case reports and case series. Ann Plast Surg. 2015;75:361363.
5. Lee SY, Sagoo H, Whitehurst K, et al. Compliance of systematic reviews in plastic surgery with the PRISMA statement. JAMA Facial Plast Surg. 2015;17:15.
Copyright © 2016 by the American Society of Plastic Surgeons