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Craniofacial Malformations

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Textbook of Plastic and Reconstructive Surgery

Abstract

Craniofacial malformations are relatively rare congenital disorders. They represent a complex subject and require a multidisciplinary specialized approach.

The clinical presentation includes isolated defects, sequences, and syndromes. These different groups of disorders include complex syndromes marked by multiple sutural fusions (e.g., Crouzon, Saethre–Chotzen, and Apert syndromes), better-known anomalies (e.g., cleft lip and palate, simple craniosynostosis, and craniofacial microsomia), and other different types of congenital defects for which diagnosis is more difficult. This vast array of dysmorphism involves abnormalities of craniofacial development that vary from minor to major morpho-functional anomalies of the facial features and the skull.

Systems of classification have been arbitrary or could not be standardized because of an extreme clinical variability and a spectrum of severity. Tessier, in 1976, presented a devised classification system in which a number is assigned to the site of each facial cleft (including bone and soft tissues defects), based on its relationship to the sagittal midline. This descriptive system has become widely accepted because of the ease of recording, communication, and correlation between clinical appearance with practical surgical anatomy.

The most common craniofacial malformations are cleft lip and palate, craniofacial microsomia, and craniosynostosis. The remaining craniofacial anomalies (e.g., craniofacial cleft and craniofacial syndromes) have very low rates of occurrence.

An appropriate surgical correction is fundamental for a normal social life and interaction. Indeed, whatever the deformity, it has a significant potential for psychological frustration among the entire family, with the patient emotional insecurity and parents deep guilt feelings.

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References

  1. Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG. The ontogeny of Robin sequence. Am J Med Genet A. 2018;176(6):1349–68.

    PubMed  Google Scholar 

  2. Sperber GH. Pathogenesis and morphogenesis of craniofacial anomalies. Ann Acad Med Singap. 1999;28:703.

    Google Scholar 

  3. Bradley JP, Hurwitz DJ, Carstens MH. Embryology, classifications, and descriptions of craniofacial clefts. In: Mathes SJ, Hentz VR, editors. Plastic surgery, vol. 4. 2nd ed. Philadelphia, PA: Saunders Elsevier; 2006. p. 15.

    Google Scholar 

  4. Dufresne CR, Jelks G. Classification of craniofacial malformations. In: Smith and Nesi’s ophthalmic plastic and reconstructive surgery. p. 1051–72.

    Google Scholar 

  5. Kawamoto HK, Wang MK, Macomber WB. Rare craniofacial clefts. In: Converse JM, editor. Plastic and reconstructive surgery. St. Louis, MO: The CV Mosby Co.; 1977.

    Google Scholar 

  6. Kawamoto HK. The kaleidoscopic world of rare craniofacial clefts: order out of chaos (Tessier classification). Clin Plast Surg. 1976;3:529.

    PubMed  Google Scholar 

  7. Tessier P, et al. A new anatomical classification of facial clefts cranio-facial and latero-lateral clefts and their distribution around the orbit. In: Plastic surgery of the orbit and eyelids. New York: Masson; 1981.

    Google Scholar 

  8. Tessier P. Anatomical classification of facial, craniofacial and laterofacial clefts. J Maxillofac Surg. 1976;4:69.

    CAS  PubMed  Google Scholar 

  9. Wise CA, Chiang LC, Paznekas WA, et al. TCOF-1 encode a putative nucleolar phosphate that exhibits mutations in Treacher-Collins syndrome throughout its coding region. Proc Natl Acad Sci U S A. 1997;94:310.

    Google Scholar 

  10. Sedano HO, Cohen MM Jr, Jirasek J, Gorlin RJ. Frontonasal dysplasia. J Pediatr. 1970;76:906–13.

    CAS  PubMed  Google Scholar 

  11. Kernahan DA. The striped Y: a symbolic classification for cleft lips and palates. Plast Reconstr Surg. 1971;47:469.

    CAS  PubMed  Google Scholar 

  12. Witt PD, Rapley J. Classification, varieties, and pathologic anatomy of primary labial cleft. In: Mathes SJ, Hentz VR, editors. Plastic surgery, vol. 4. 2nd ed. Philadelphia, PA: Saunders Elsevier; 2006. p. 45.

    Google Scholar 

  13. Bardach J, Morris HL, editors. Multidisciplinary management of cleft lip and palate. Philadelphia, PA: WB Saunders; 1990. p. 23.

    Google Scholar 

  14. Berkowitz S. Ceft lip and palate: with an introduction to other craniofacial anomalies. San Diego, CA, Singular; 1996.

    Google Scholar 

  15. Veau V. Division palatine. Paris, Masson, 1931.

    Google Scholar 

  16. Harkins CS, Berlin A, Harding RL, et al. Classification of cleft lip and palate. Plast Reconstr Surg. 1962;29:31.

    CAS  Google Scholar 

  17. Kahn DM, Schendel SA. Anatomy and classification of alveolar and palatal cleft. In: Plastic surgery, 2nd ed, Mathes SJ, Hentz VR (Eds), Saunders Elsevier, Philadelphia, PA 2006. 4, p. 69.

    Google Scholar 

  18. Kriens O. Documentation of the cleft lip, alveolus, and palate. In: Bardach J, Morris HL, editors. Multidisciplinary management of cleft lip and palate. Philadelphia, PA: WB Saunders; 1990. p. 127.

    Google Scholar 

  19. Neligan P, Warren RJ, Van Beek A. Plastic surgery. London/New York: Elsevier Saunders; 2013.

    Google Scholar 

  20. Cohen MM Jr. Perspectives on craniosynostosis. West J Med. 1980;132:507.

    CAS  PubMed  PubMed Central  Google Scholar 

  21. Cohen MM Jr. An etiologic and nosologic overview of craniosynostosis syndromes. Birth Defects. 1975;11:137.

    PubMed  Google Scholar 

  22. D’Antonio LL, Marsh JL. Abnormal carotid arteries in the velocardiofacial syndrome. Plast Reconstr Surg. 1987;80:471–2.

    PubMed  Google Scholar 

  23. Converse JM, Coccaro PJ, Becker MH, et al. Clinical aspects of craniofacial microsomia. In: Converse JM, McCarthy JG, Woodsmith D, editors. Symposium on diagnosis and treatment of craniofacial anomalies. CV Mosby: St Louis, MO; 1979. p. 461–75.

    Google Scholar 

  24. Cohen MM Jr, Rollnick BR, Kaye CI. Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J. 1989;26:276–86.

    PubMed  Google Scholar 

  25. Jacobsson C. Teratological studies on craniofacial malformations. Swed Dent J Suppl. 1997;121:3–84.

    CAS  PubMed  Google Scholar 

  26. Singer SL, Haan E, Slee J, et al. Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports. Aust Dent J. 1994;39:287–91.

    CAS  PubMed  Google Scholar 

  27. McCarthy JG, Hopper RA, Grayson BH. Craniofacial microsomia. In: Mathes SJ, Hentz VR, editors. Plastic surgery, vol. 4. 2nd ed. Philadelphia, PA: Saunders Elsevier; 2006. p. 91.

    Google Scholar 

  28. Sedano HO, Gorlin RJ. Frontonasal malformation as a field defect and in syndromic association. Oral Surg Oral Med Oral Pathol. 1988;65:704–10.

    CAS  PubMed  Google Scholar 

  29. Nevin NC, Leonard AG, Jones B. Frontonasal dysostosis in two successive generation. Am J Med Genet. 1999;87:251–3.

    CAS  PubMed  Google Scholar 

  30. De Moor MM, Baruch R, Human DG. Frontonasal dysplasia associated with tetralogy of Fallot. J Med Genet. 1987;24:107–9.

    PubMed  PubMed Central  Google Scholar 

  31. Feldman GJ, Ward DE, Lajeunie-Renier E, et al. A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. Hum Mol Genet. 1997;6:1937–41.

    CAS  PubMed  Google Scholar 

  32. Harris J, Källén B, Robert E. The epidemiology of anotia and microtia. J Med Genet. 1996;33:809–13.

    CAS  PubMed  PubMed Central  Google Scholar 

  33. Luquetti DV, Leoncini E, Mastroiacovo P. Microtia-anotia: a global review of prevalence rates. Birth Defects Res A Clin Mol Teratol. 2011;91:813–22.

    CAS  PubMed  PubMed Central  Google Scholar 

  34. Gendron C, Schwentker A, van Aalst JA. Genetic advances in the understanding of microtia. J Pediatr Genet. 2016;5(4):189–97.

    PubMed  PubMed Central  Google Scholar 

  35. Converse JM, Horowitz SL, Coccaro PJ, Wood-Smith D. The corrective treatment of the skeletal asymmetry in hemifacial microsomia. Plast Reconstr Surg. 1973;52:221.

    CAS  PubMed  Google Scholar 

  36. Converse JM, Wood-Smith D, McCarthy JG, et al. Bilateral facial microsomia. Plast Reconstr Surg. 1974;54:413.

    CAS  PubMed  Google Scholar 

  37. Brent B. Technical advances in ear reconstruction with autogenous rib cartilage grafts: personal experience with 1200 cases. Plast Reconstr Surg. 1999;104:319.

    CAS  PubMed  Google Scholar 

  38. Stricker M, Van der Meulen JC, Raphael B, Mazzola R, Tolhurst DE, Murray JE. Craniofacial malformation. 1990.

    Google Scholar 

  39. Chancholle Chancholle AR. Les boucles musculo-aponeurologiques velo-pharyngofaciales. Etude Fonctionnelle Annales de Chirurgie Plastique. 1980;25:135–46.

    Google Scholar 

  40. Millard DR Jr. The unilateral deformity. In: Millard Jr DR, editor. Cleft craft – the evolution of its surgery, vol. I. Boston, MA: Little, Brown; 1976.

    Google Scholar 

  41. Noordhoff MS. Reconstruction of vermilion in unilateral and bilateral cleft lips. Plast Reconstr Surg. 1984;73:52–61.

    CAS  PubMed  Google Scholar 

  42. Roussel LO, Myers RP, Girotto JA. The Millard rotationadvancement cleft lip repair: 50 years of modification. Cleft Palate Craniofac J. 2015;52:e188–95.

    PubMed  Google Scholar 

  43. Fisher DM. Unilateral cleft lip repair: an anatomical subunit approximation technique. Plast Reconstr Surg. 2005;116:61–71.

    CAS  PubMed  Google Scholar 

  44. Mulliken JB. Repair of bilateral cleft lip. In: Neligan PC, Rodriguez ED, Losee JE, editors. Plastic surgery, vol. 3. Philadelphia, PA: Saunders-Elsevier Health Sciences; 2012. p. 343–60.

    Google Scholar 

  45. Marcus JR, Allori AC, Santiago PE. Principles of cleft lip repair: conventions, commonalities, and controversies. Plast Reconstr Surg. 2017;139:764e.

    CAS  PubMed  Google Scholar 

  46. Marcus JR, Allori AC, Santiago PE. Principles of cleft lip repair: conventions, commonalities, and controversies. Plast Reconstr Surg. 2017;139:764e.

    CAS  PubMed  Google Scholar 

  47. Chen PK-T, Wu J, Hung KF, et al. Surgical correction of submucous cleft palate with furlow palatoplasty. Plast Reconstr Surg. 1996;97:1136–46.

    CAS  PubMed  Google Scholar 

  48. Rizzo MI, Cecchi P, Zadeh OR, Zama M. Velopharyngeal insufficiency and hypernasal voice: 15 years’ experience with furlow palatoplasty. J Oral Maxillofac Surg. 2018;76(1):3–4.

    PubMed  Google Scholar 

  49. Renier D. Longitudinal assessment of mental development in infants with nonsyndromic craniosynostosis with and without cranial release and reconstruction:discussion. Plast Reconstr Surg. 1993;92:840.

    Google Scholar 

  50. McCarthy JG, Cutting CB. The timing of surgical intervention in craniofacial anomalies. Clin Plast Surg. 1990;17:161–82.

    CAS  PubMed  Google Scholar 

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  1. Children’s Hospital Bambino Gesù, Rome, Italy

    Mario Zama & Maria Ida Rizzo

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  1. Mario Zama
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  2. Maria Ida Rizzo
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Correspondence to Mario Zama .

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Editors and Affiliations

  1. Plastic and Reconstructive Surgery, University of Bari Aldo Moro, Bari, Italy

    Michele Maruccia

  2. Plastic and Reconstructive Surgery, University of Bari Aldo Moro, Bari, Italy

    Giuseppe Giudice

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Zama, M., Rizzo, M.I. (2022). Craniofacial Malformations. In: Maruccia, M., Giudice, G. (eds) Textbook of Plastic and Reconstructive Surgery. Springer, Cham. https://doi.org/10.1007/978-3-030-82335-1_12

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  • DOI: https://doi.org/10.1007/978-3-030-82335-1_12

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