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.
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
Franceschetti, A., Klein, D.: The mandibulofacial dysostosis: A new hereditary syndrome. Acta Ophthalmol.27:144, 1949
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, 1846
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, 1900
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, 1900
Lockhart, R.D.: Variation coincident with congenital absence of the zygoma. J. Anat.63:233, 1929
Francheschetti, A., Zwahlen, P.: Un syndrome nouveau: La dysostose mandibulo-faciale. Bull. Schweiz. Akad. Med. Wissenschaften1:60, 1944
Klimen, G.R.: Treacher Collins syndrome: Report of a case. A.S.D.C. J. Dentistry for Children46:134, 1979
Kolar, J.C., Farkas, L.G., Munro, I.R.: Surface morphology in Treacher Collins syndrome: An anthropometric study. Cleft Palate J.2:266, 1985
Smith, D.W.: Recognisable Patterns of Human Malformation: Genetic, Embryologic, and Clinical Aspects, 3rd edition, Philadelphia, W.B. Saunders, 1982
Herring, S.W., Rowlatt, U.F., Pruzansky, S.: Anatomical abnormalities in mandibulofacial dysostosis. Am. J. Med. Genet.3:225, 1979
Baker, W.Y., Smith, L.H.: Facial disfigurement and personality. J.A.M.A.112:301, 1939
McGregor, F.C.: After Plastic Surgery: Adaptation and Adjustment, New York, Praeger, 1979
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. 1–23
Lefebvre, A., Munro, I.: The role of psychiatry in a craniofacial team. Plast. Reconstr. Surg.61:564, 1978
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. 171–199
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. 201–213
Lefebvre, A., Barclay, S.: Psychosocial impact of craniofacial team. Can. J. Psychiatry27:576, 1982
Poswillo, D.: The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br. J. Oral Surg.13:1, 1975
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, 1987
Berry, G.A.: Note on a congenital defect (coloboma?) of the lower lid. Ophthalmol. Sodp. Rep. (London)12:255, 1888
Dahl, E., Kreiborg, S., Bjork, A.: A morphologic description of a dry skull with mandibulofacial dysostosis. Scand. J. Dental Res.83:257, 1975
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, 1986
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)
Goodman, R.M., Gorlin, R.J.: The Malformed Infant and Child. New York, Oxford University Press, 1983. p. 280
Roa, N.L., Moss, K.S.: Treacher-Collins syndrome with sleep apnea: Anesthetic considerations. Anesthesiology60:71. 1984
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, 1986
Marino, H., Appiani, E.: Dysostosis mandibulo-facial. Prensa Med. Argentina51:3083, 1954
Snyder, C.C.: Bilateral facial agenesis (Treacher Collins syndrome). Am. J. Surg.92:81, 1956
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. 1961
O'Connor, G.B., Conway, M.E.: Treacher Collins Syndrome (dysostosis mandibulo-facialis). Plast. Reconstr. Surg.5:419, 1950
Jackson, I.T.: Reconstruction of the lower eyelid defect in Treacher Collins syndrome. Plast. Reconstr. Surg.67:365, 1981
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. 1989
Rogers, B.O.: Berry-Treacher Collins syndrome: A review of 200 cases (mandibulofacial dysostosis; Franceschetti-Zwahlen-Klein syndromes). Br. J. Plast. Surg.17:109, 1964
Dupertueis, S.M.: Growth of young human autogenous cartilage grafts. Plast. Reconstr. Surg.5:486, 1950
Straith, C.L., Lewis, J.R.: Associated congenital defects of the ears, eyelids and malar bones (Treacher Collins syndrome). Plast. Reconstr. Surg.4:204. 1949
Gillies, H., Millard. Jr., D.R.: The Principles and Art of Plastic Surgery, Boston, Little. Brown and Company, 1957
Rogers, B.O.: Mandibulofacial dysostosis. In Reconstructive Plastic Surgery, J. Converse, editor, Philadelphia. W.B. Saunders, 1977. pp. 2401–2426
Tessier, P.L.: Autogenous bone grafts taken from the calvarium for facial and cranial applications. Clin. Plast. Surg.9:531, 1982
McCarthy, J.G., Zide, B.M.: The spectrum of calvarial bone grafting: Introduction of the vascularized calvarial bone flap. Plast. Reconstr. Surg.74:10, 1984
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. 1984
Argenta, L.C., Adson, M.H., Iacobucci, J.J.: Tissue expansion revisited. Adv. Plast. Reconstr. Surg.4:113, 1987
Tulasne, J.F., Tessier. P.L.: Results of the Tessier integral procedure for correction of Treacher Collins syndrome. Cleft Palate J.Suppl.:December, 1986
Tanzer, R.C.: The constricted (cup and lop) ear. Plast. Reconstr. Surg.55:406, 1975
Brent, B.: The correction of microtia with autogenous cartilage grafts: II. Atypical and complex deformities. Plast. Reconstr. Surg.66:13, 1980
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. 739–757
Argenta, L.C., Dingman, R.O., Friedman, R.J., Duus, E.C.: The versatility of pericranial flaps. Plast. Reconstr. Surg.76:695, 1985
Guerrerosantos, J.: Recontouring of the middle third of the face with onlay cartilage plus free fascia graft. Ann. Plast. Surg.18:409, 1987
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Argenta, L.C., Iacobucci, J.J. Treacher Collins Syndrome: Present concepts of the disorder and their surgical correction. World J. Surg. 13, 401–409 (1989). https://doi.org/10.1007/BF01660753
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DOI: https://doi.org/10.1007/BF01660753