Treacher Collins Syndrome

Abstract

Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome.

Keywords

Treacher Collins syndrome - Franceschetti-Klein syndrome - mandibulofacial dysostosis - microtia - microsomia - mandibular distraction - malar hypoplasia - facial clefting

• References

• 1 Scully C, Langdon J, Evans J. Marathon of eponyms: 20 Treacher Collins syndrome. Oral Dis 2011; 17 (6) 619-620
• 2 Collins ET. Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones. Trans Ophthalmol Soc U K 1900; 20: 190-192
• 3 Franceschetti A, Klein D. The mandibulofacial dysostosis; a new hereditary syndrome. Acta Ophthalmol (Copenh) 1949; 27 (2) 143-224
• 4 Dixon MJ. Treacher Collins syndrome. J Med Genet 1995; 32 (10) 806-808
• 5 Dixon J, Trainor P, Dixon MJ. Treacher Collins syndrome. Orthod Craniofac Res 2007; 10 (2) 88-95
• 6 Terner JS, Travieso R, Chang C, Bartlett SP, Steinbacher DM. An analysis of mandibular volume in Treacher Collins syndrome. Plast Reconstr Surg 2012; 129 (4) 751e-753e
• 7 Hertle RW, Ziylan S, Katowitz JA. Ophthalmic features and visual prognosis in the Treacher-Collins syndrome. Br J Ophthalmol 1993; 77 (10) 642-645
• 8 Fernandez AO, Ronis ML. The Treacher-Collins Syndrome. Arch Otolaryngol 1964; 80: 505-520
• 9 Posnick JC, al-Qattan MM, Moffat SM, Armstrong D. Cranio-orbito-zygomatic measurements from standard CT scans in unoperated Treacher Collins syndrome patients: comparison with normal controls. Cleft Palate Craniofac J 1995; 32 (1) 20-24
• 10 Chong DK, Murray DJ, Britto JA, Tompson B, Forrest CR, Phillips JH. A cephalometric analysis of maxillary and mandibular parameters in Treacher Collins syndrome. Plast Reconstr Surg 2008; 121 (3) 77e-84e
• 11 Steinbacher DM, Bartlett SP. Relation of the mandibular body and ramus in Treacher Collins syndrome. J Craniofac Surg 2011; 22 (1) 302-305
• 12 Posnick JC, Tiwana PS, Costello BJ. Treacher Collins syndrome: comprehensive evaluation and treatment. Oral Maxillofac Surg Clin North Am 2004; 16 (4) 503-523
• 13 Farkas LG, Posnick JC. Detailed morphometry of the nose in patients with Treacher Collins syndrome. Ann Plast Surg 1989; 22 (3) 211-219
• 14 Cohen J, Ghezzi F, Gonçalves L, Fuentes JD, Paulyson KJ, Sherer DM. Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature. Am J Perinatol 1995; 12 (6) 416-419
• 15 Ochi H, Matsubara K, Ito M, Kusanagi Y. Prenatal sonographic diagnosis of Treacher Collins syndrome. Obstet Gynecol 1998; 91 (5 Pt 2) 862
• 16 Tanaka Y, Kanenishi K, Tanaka H, Yanagihara T, Hata T. Antenatal three-dimensional sonographic features of Treacher Collins syndrome. Ultrasound Obstet Gynecol 2002; 19 (4) 414-415
• 17 Hsu TY, Hsu JJ, Chang SY, Chang MS. Prenatal three-dimensional sonographic images associated with Treacher Collins syndrome. Ultrasound Obstet Gynecol 2002; 19 (4) 413-422
• 18 Ellis PE, Dawson M, Dixon MJ. Mutation testing in Treacher Collins syndrome. J Orthod 2002; 29 (4) 293-297 , discussion 278
• 19 Shprintzen RJ, Croft C, Berkman MD, Rakoff SJ. Pharyngeal hypoplasia in Treacher Collins syndrome. Arch Otolaryngol 1979; 105 (3) 127-131
• 20 Miloro M. Mandibular distraction osteogenesis for pediatric airway management. J Oral Maxillofac Surg 2010; 68 (7) 1512-1523
• 21 Steinbacher DM, Kaban LB, Troulis MJ. Mandibular advancement by distraction osteogenesis for tracheostomy-dependent children with severe micrognathia. J Oral Maxillofac Surg 2005; 63 (8) 1072-1079
• 22 Singh DJ, Glick PH, Bartlett SP. Mandibular deformities: single-vector distraction techniques for a multivector problem. J Craniofac Surg 2009; 20 (5) 1468-1472
• 23 Miller JJ, Schendel SA. Invited discussion: surgical treatment of Treacher Collins syndrome. Ann Plast Surg 2006; 56 (5) 555-556
• 24 Kaban LB, Seldin EB, Kikinis R, Yeshwant K, Padwa BL, Troulis MJ. Clinical application of curvilinear distraction osteogenesis for correction of mandibular deformities. J Oral Maxillofac Surg 2009; 67 (5) 996-1008
• 25 Shetye PR, Grayson BH, Mackool RJ, McCarthy JG. Long-term stability and growth following unilateral mandibular distraction in growing children with craniofacial microsomia. Plast Reconstr Surg 2006; 118 (4) 985-995
• 26 Kobus K, Wójcicki P. Surgical treatment of Treacher Collins syndrome. Ann Plast Surg 2006; 56 (5) 549-554
• 27 Obwegeser HL. Variations of a standard approach for correction of the bird-face deformity. J Craniomaxillofac Surg 1988; 16 (6) 247-265
• 28 da Silva Dalben G, Costa B, Gomide MR. Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006; 101 (5) 588-592
• 29 da Silva Dalben G, Teixeira das Neves L, Ribeiro Gomide M. Oral health status of children with Treacher Collins syndrome. Spec Care Dentist 2006; 26 (2) 71-75 , quiz 85–87
• 30 da Silva Freitas R, Tolazzi AR, Alonso N, Cruz GA, Busato L. Evaluation of molar teeth and buds in patients submitted to mandible distraction: long-term results. Plast Reconstr Surg 2008; 121 (4) 1335-1342
• 31 Bresnick S, Walker J, Clarke-Sheehan N, Reinisch J. Increased fistula risk following palatoplasty in Treacher Collins syndrome. Cleft Palate Craniofac J 2003; 40 (3) 280-283
• 32 Jahrsdoerfer RA, Jacobson JT. Treacher Collins syndrome: otologic and auditory management. J Am Acad Audiol 1995; 6 (1) 93-102
• 33 Bauer BS. Reconstruction of microtia. Plast Reconstr Surg 2009; 124 (1, Suppl) 14e-26e
• 34 Tanzer RC. Total reconstruction of the auricle. The evolution of a plan of treatment. Plast Reconstr Surg 1971; 47 (6) 523-533
• 35 Brent B. Microtia repair with rib cartilage grafts: a review of personal experience with 1000 cases. Clin Plast Surg 2002; 29 (2) 257-271 , vii vii
• 36 Firmin F. Ear reconstruction in cases of typical microtia. Personal experience based on 352 microtic ear corrections. Scand J Plast Reconstr Surg Hand Surg 1998; 32 (1) 35-47
• 37 Nagata S. Total auricular reconstruction with a three-dimensional costal cartilage framework. Ann Chir Plast Esthet 1995; 40 (4) 371-399 , discussion 400–403
• 38 Marsella P, Scorpecci A, Pacifico C, Tieri L. Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome: tips and pitfalls. Int J Pediatr Otorhinolaryngol 2011; 75 (10) 1308-1312
• 39 Goodrich JT, Hall CD. Craniofacial Anomalies: Growth and Development from a Surgical Perspective. New York, NY: Thieme Medical Publishers; 1995: 213
• 40 Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J 2000; 37 (5) 434
• 41 Taylor JA. Bilateral orbitozygomatic reconstruction with tissue-engineered bone. J Craniofac Surg 2010; 21 (5) 1612-1614
• 42 Abukawa H, Shin M, Williams WB, Vacanti JP, Kaban LB, Troulis MJ. Reconstruction of mandibular defects with autologous tissue-engineered bone. J Oral Maxillofac Surg 2004; 62 (5) 601-606
• 43 Jones NF. The contribution of microsurgical reconstruction to craniofacial surgery. World J Surg 1989; 13 (4) 454-464
• 44 Saadeh PB, Chang CC, Warren SM, Reavey P, McCarthy JG, Siebert JW. Microsurgical correction of facial contour deformities in patients with craniofacial malformations: a 15-year experience. Plast Reconstr Surg 2008; 121 (6) 368e-378e
• 45 Coleman SR. Facial augmentation with structural fat grafting. Clin Plast Surg 2006; 33 (4) 567-577