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World Journal of Surgery

, Volume 13, Issue 4, pp 401–409 | Cite as

Treacher Collins Syndrome: Present concepts of the disorder and their surgical correction

  • Louis C. Argenta
  • John J. Iacobucci
Pogress Symposium—Progerss in Craniofacial Surgery

Abstract

Treacher Collins Syndrome is a rare bilateral congenital deformity occurring in 1 in 10,000 births. It is also known, in the European literature, as Franceschetti Syndrome, and is additionally known as mandibulofacial dysostosis. It is a syndrome with a very wide spectrum of manifestations characterized by distortions of the orbit secondary to hypoplasia of the maxilla, mandible, and, most markedly, of the zygoma. Soft tissue deformities include lower lid colobomas, laxity and dystopia of the lateral canthus, microtia, and a paucity of the muscular aponeurosis of the midface. The syndrome is frequently accompanied by significant hearing loss, early failure to thrive, chronic respiratory insufficiency, and sleep apnea. Intelligence is usually within normal limits although learning disabilities are common in early life. These major anatomical and physiological abnormalities, as well as the psychological and social stigma associated with severe facial deformity, make this syndrome one of the most challenging reconstructive problems presented to the craniofacial surgeon.

Keywords

Sleep Apnea Colobomas Congenital Deformity Dysostosis Facial Deformity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Résumé

Le syndrome de Treacher Collins est une malformation bilatérale congénitale rare: 1/10,000 naissances. Dans la littérature européenne, on l'appelle aussi syndrome de Franceschetti ou dysostose mandibulofaciale. Ses manifestations varient et se caractérisent par des modifications morphologiques de l'orbite secondaires à une hypoplasie du maxillaire supérieur, de la mandibule, et surtout du zygoma. Les malformations des parties molles comprennent: colobomes de la paupière inférieure, laxité et dystopie du canthus externe, microtie et insuffisance de l'aponévrose musculaire faciale. On constate souvent une importante baisse d'audition, l'impossibilité de prendre du poids, de l'insuffisance respiratoire chronique, et des apnées du sommeil. En général, l'intelligence reste dans les limites de la normale mais des inaptitudes d'apprentissage se constatent fréquemment dès les premiers jours de la vie. Ces anomalies anatomiques et physiologiques majeures jointes aux stigmates psychologiques et sociales qui accompagnent la malformation faciale posent un des plus graves problèmes de la chirurgie reconstructrice ou chirurgie craniofaciale.

Resumen

El síndrome de Treacher Collins es una rara malformación congénita bilateral que ocurre en 1 de cada 10,000 nacimientos. Son sinónimos el Síndrome de Franceschetti, en la literatura europea, y la disostosis mandibulofacial. Es un si'ndrome con un amplio espectro de manifestaciones, caracterizado por distorsiones de la órbita secundarias a hipoplasia del maxilar, de la mandibula, y, lo más prominente, del zigoma. Las deformaciones de los tejidos blandos incluyen colobomas del párpado inferior, laxitud y distopia del canto lateral, microcia, y deficiencias de la aponeurosis de la porción media de la cara. El síndrome frecuentemente se acompaña de significativa pérdida de la audición, falla temprana en el desarrollo corporal, insuficiencia respiratoria crónica, y apnea del sueño. La inteligencia aparece generalmente dentro de limites normales, aunque son comunes las deficiencias en el proceso de aprendizaje en la edad temprana. Tales anomalías anatómicas y fisiológicas, junto con el estigma social que representa la severa deformidad facial, hacen de este síndrome uno de los desafíos quirÚrgicos de reconstrucción más importantes que se presentan al cirujano craneofacial.

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References

  1. 1.
    Franceschetti, A., Klein, D.: The mandibulofacial dysostosis: A new hereditary syndrome. Acta Ophthalmol.27:144, 1949Google Scholar
  2. 2.
    Thompson, A.: Notice of several cases of malformation of the external ear, together with experiments on the state of hearing in such persons. Monthly J. Medical Sci.7:420, 1846Google Scholar
  3. 3.
    Collins, E.T.: 8. Case with symmetrical congenital notches in the outer part of each lower lid with defective development of the malar bones. Trans. Ophthalmol. Soc. U.K.20:190, 1900Google Scholar
  4. 4.
    Collins, E.T.: 9. Case with symmetrical congenital notches in the outer part of each lower lid with defective development of the malar bones. Trans. Ophthalmol. Soc. U.K.20:191, 1900Google Scholar
  5. 5.
    Lockhart, R.D.: Variation coincident with congenital absence of the zygoma. J. Anat.63:233, 1929Google Scholar
  6. 6.
    Francheschetti, A., Zwahlen, P.: Un syndrome nouveau: La dysostose mandibulo-faciale. Bull. Schweiz. Akad. Med. Wissenschaften1:60, 1944Google Scholar
  7. 7.
    Klimen, G.R.: Treacher Collins syndrome: Report of a case. A.S.D.C. J. Dentistry for Children46:134, 1979Google Scholar
  8. 8.
    Kolar, J.C., Farkas, L.G., Munro, I.R.: Surface morphology in Treacher Collins syndrome: An anthropometric study. Cleft Palate J.2:266, 1985Google Scholar
  9. 9.
    Smith, D.W.: Recognisable Patterns of Human Malformation: Genetic, Embryologic, and Clinical Aspects, 3rd edition, Philadelphia, W.B. Saunders, 1982Google Scholar
  10. 10.
    Herring, S.W., Rowlatt, U.F., Pruzansky, S.: Anatomical abnormalities in mandibulofacial dysostosis. Am. J. Med. Genet.3:225, 1979Google Scholar
  11. 11.
    Baker, W.Y., Smith, L.H.: Facial disfigurement and personality. J.A.M.A.112:301, 1939Google Scholar
  12. 12.
    McGregor, F.C.: After Plastic Surgery: Adaptation and Adjustment, New York, Praeger, 1979Google Scholar
  13. 13.
    Berscheid, E.: An Overview of the Psychological Aspects of Facial Form, Monograph No. 11, Craniofacial Growth Series, G.W. Lucker, K.A. Ribbens, J.A. McNamara, Jr., editors, Ann Arbor. University of Michigan. 1980, pp. 1–23Google Scholar
  14. 14.
    Lefebvre, A., Munro, I.: The role of psychiatry in a craniofacial team. Plast. Reconstr. Surg.61:564, 1978Google Scholar
  15. 15.
    Munro, I.R.: The Psychological Effects of Surgical Treatment of Facial Deformity, Monograph No. 11, Craniofacial Growth Series. G.W. Lucker, K.A. Ribbens, J.A. McNamara. Jr., editors, Ann Arbor, University of Michigan, 1980. pp. 171–199Google Scholar
  16. 16.
    Strauss, R.P.: Surgery. Activism and Aesthetics: A Sociological Perspective on Treating Facial Disfigurement. Monograph No. 11, Craniofacial Growth Series, G.W. Lucker, K.A. Ribbens. J.A. McNamara, Jr., editors, Ann Arbor, University of Michigan. 1980, pp. 201–213Google Scholar
  17. 17.
    Lefebvre, A., Barclay, S.: Psychosocial impact of craniofacial team. Can. J. Psychiatry27:576, 1982Google Scholar
  18. 18.
    Poswillo, D.: The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br. J. Oral Surg.13:1, 1975Google Scholar
  19. 19.
    Sulik, K., Johnston, M.C., Smiley, S.J., Speught, J.S., Jarvis, B.E.: Mandibulofacial dysostosis (Treacher Collins syndrome): A new proposal for its pathogenesis. Am. J. Medical Genet.27:359, 1987Google Scholar
  20. 20.
    Berry, G.A.: Note on a congenital defect (coloboma?) of the lower lid. Ophthalmol. Sodp. Rep. (London)12:255, 1888Google Scholar
  21. 21.
    Dahl, E., Kreiborg, S., Bjork, A.: A morphologic description of a dry skull with mandibulofacial dysostosis. Scand. J. Dental Res.83:257, 1975Google Scholar
  22. 22.
    Marsh, J.L., Celin, S.E., Vannier, M.W., Gado, M.: The skeletal anatomy of mandibulofacial dysostosis (Treacher Collins syndrome). Plast. Reconstr. Surg.78:460, 1986Google Scholar
  23. 23.
    Meyerson, M.D.: The effect of syndrome diagnosis on speech remediation. In Diagnostic Accuracy: Effect on Treatment Planning. Proc. of the Seventh Annual Symp. of the Soc. of Craniofacial Genetics, Denver, Colorado, 1984, R.J. Sphrintzen, N.W. Paul, editors, New York, A.R. Liss, 1985 (March of Dimes Birth Defects Foundation: Birth Defects: Original Article Series21:47. 1984)Google Scholar
  24. 24.
    Goodman, R.M., Gorlin, R.J.: The Malformed Infant and Child. New York, Oxford University Press, 1983. p. 280Google Scholar
  25. 25.
    Roa, N.L., Moss, K.S.: Treacher-Collins syndrome with sleep apnea: Anesthetic considerations. Anesthesiology60:71. 1984Google Scholar
  26. 26.
    Rasch, D.K., Browder, F., Barr, M., Greer, D.: Anaesthesia for Treacher Collins and Pierre Robin syndromes: A report of three cases. Can. Anaesth. Soc. J.33:364, 1986Google Scholar
  27. 27.
    Marino, H., Appiani, E.: Dysostosis mandibulo-facial. Prensa Med. Argentina51:3083, 1954Google Scholar
  28. 28.
    Snyder, C.C.: Bilateral facial agenesis (Treacher Collins syndrome). Am. J. Surg.92:81, 1956Google Scholar
  29. 29.
    Longacre, J.J., deStefano, G.A., Holmstrand, K.: The early versus the late reconstruction of congenital hypoplasias of the facial skeleton and skull. Plast. Reconstr. Surg.27:489. 1961Google Scholar
  30. 30.
    O'Connor, G.B., Conway, M.E.: Treacher Collins Syndrome (dysostosis mandibulo-facialis). Plast. Reconstr. Surg.5:419, 1950Google Scholar
  31. 31.
    Jackson, I.T.: Reconstruction of the lower eyelid defect in Treacher Collins syndrome. Plast. Reconstr. Surg.67:365, 1981Google Scholar
  32. 32.
    Marks, M.W., Argenta, L.C., Friedman, R.J., Hall, J.D.: Conchal cartilage and composite grafts for correction of lower lid retraction. Plast. Reconstr. Surg.83:629. 1989Google Scholar
  33. 33.
    Rogers, B.O.: Berry-Treacher Collins syndrome: A review of 200 cases (mandibulofacial dysostosis; Franceschetti-Zwahlen-Klein syndromes). Br. J. Plast. Surg.17:109, 1964Google Scholar
  34. 34.
    Dupertueis, S.M.: Growth of young human autogenous cartilage grafts. Plast. Reconstr. Surg.5:486, 1950Google Scholar
  35. 35.
    Straith, C.L., Lewis, J.R.: Associated congenital defects of the ears, eyelids and malar bones (Treacher Collins syndrome). Plast. Reconstr. Surg.4:204. 1949Google Scholar
  36. 36.
    Gillies, H., Millard. Jr., D.R.: The Principles and Art of Plastic Surgery, Boston, Little. Brown and Company, 1957Google Scholar
  37. 37.
    Rogers, B.O.: Mandibulofacial dysostosis. In Reconstructive Plastic Surgery, J. Converse, editor, Philadelphia. W.B. Saunders, 1977. pp. 2401–2426Google Scholar
  38. 38.
    Tessier, P.L.: Autogenous bone grafts taken from the calvarium for facial and cranial applications. Clin. Plast. Surg.9:531, 1982Google Scholar
  39. 39.
    McCarthy, J.G., Zide, B.M.: The spectrum of calvarial bone grafting: Introduction of the vascularized calvarial bone flap. Plast. Reconstr. Surg.74:10, 1984Google Scholar
  40. 40.
    van der Meulen, J.C.H., Hauben, D.J., Vaandrager, J.M., Birgenhager-Frenkel, D.H.: The use of a temporal osteoperiosteal flap for the reconstruction of malar hypoplasia in Treacher Collins syndrome. Plast. Reconstr. Surg.74:687. 1984Google Scholar
  41. 41.
    Argenta, L.C., Adson, M.H., Iacobucci, J.J.: Tissue expansion revisited. Adv. Plast. Reconstr. Surg.4:113, 1987Google Scholar
  42. 42.
    Tulasne, J.F., Tessier. P.L.: Results of the Tessier integral procedure for correction of Treacher Collins syndrome. Cleft Palate J.Suppl.:December, 1986Google Scholar
  43. 43.
    Tanzer, R.C.: The constricted (cup and lop) ear. Plast. Reconstr. Surg.55:406, 1975Google Scholar
  44. 44.
    Brent, B.: The correction of microtia with autogenous cartilage grafts: II. Atypical and complex deformities. Plast. Reconstr. Surg.66:13, 1980Google Scholar
  45. 45.
    Argenta, L.C.: The use of tissue expansion in pediatric plastic surgery. In Plastic Surgery in Infancy and Childhood, J.C. Mustardé. I.T. Jackson, editors. London. Churchill Livingstone, 1988, pp. 739–757Google Scholar
  46. 46.
    Argenta, L.C., Dingman, R.O., Friedman, R.J., Duus, E.C.: The versatility of pericranial flaps. Plast. Reconstr. Surg.76:695, 1985Google Scholar
  47. 47.
    Guerrerosantos, J.: Recontouring of the middle third of the face with onlay cartilage plus free fascia graft. Ann. Plast. Surg.18:409, 1987Google Scholar

Copyright information

© Société Internationale de Chirurgie 1989

Authors and Affiliations

  • Louis C. Argenta
    • 1
    • 2
  • John J. Iacobucci
    • 1
    • 2
  1. 1.Department of Plastic and Reconstructive Surgery, Bowman Gray School of MedicineWake Forest UniversityWinston-SalemUSA
  2. 2.Department of Surgery, Division of Plastic SurgeryWashington University, School of MedicineSt. LouisUSA

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