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Children with Craniofacial Syndromes

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Sleep Disordered Breathing in Children

Part of the book series: Respiratory Medicine ((RM))

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Abstract

Obstructive sleep apnea syndrome (OSAS) is common in children with craniofacial anomalies, particularly in children with syndromal craniofacial synostosis associated with midfacial hypoplasia, micrognathia, muscular hypotonia, brain stem compression (achondroplasia), and/or deformation of the cranial base. These anomalies lead to a decrease in the size of the nasopharynx, oropharynx, or hypopharynx and can predispose the pharynx to collapse during sleep. Increased airway resistance secondary to adenotonsillar hypertrophy is the leading cause of secondary OSAS in these children. This chapter discusses the anatomy and dynamic characteristics of the upper airway during sleep to aid the understanding of sleep apnea syndrome.

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References

  1. Sher AE. Obstructive sleep apnea syndrome: a complex disorder of the upper airway. Otolaryngol Clin North Am. 1990;23:593.

    PubMed  CAS  Google Scholar 

  2. Marcus CL, Greene MG, Caroll JL. Blood pressure in children with obstructive sleep apnea. Am J Respir Crit Care Med. 1998;157:1098–103.

    PubMed  CAS  Google Scholar 

  3. Ramakrishna S, Ingle VS, Patel S, et al. Reversible cardiopulmonary changes due to adenotonsillar hypertrophy. Int J Pediatr Otolaryngol. 2000;55:203–6.

    Article  CAS  Google Scholar 

  4. Carroll JL, McColley SA, Marcus CL, et al. Inability of clinical history to distinguish primary snoring from obstructive sleep apnea syndrome in children. Chest. 1995;108:610–8.

    Article  PubMed  CAS  Google Scholar 

  5. Jones KL. Smith’s recognizable patterns of human malformation. Philadelphia: Saunders; 1997. p. 416–21.

    Google Scholar 

  6. Cohen Jr MM. Craniosynostosis: diagnosis, evaluation and management. New York: Raven Press; 1986.

    Google Scholar 

  7. Peterson-Falzone SJ, Pruzansky S, Parris PJ, Laffer JL. Nasopharyngeal dysmorphology in Apert and Crouzon. Cleft Palate J. 1981;18:237–50.

    PubMed  CAS  Google Scholar 

  8. Blank CE. Apert’s syndrome—observations on a British series of thirty nine cases. Ann Hum Genet. 1960;24:151–64.

    Article  PubMed  CAS  Google Scholar 

  9. Peterson SJ, Pruzansky S. Palatal anomalies in the syndromes of Apert and Crouzon. Cleft Palate J. 1974;11:394–403.

    PubMed  CAS  Google Scholar 

  10. Mixter RC, David DJ, Perloff WH, Green CG, Pauli RM, Popic PM. Obstructive sleep apnea in Apert and Pfeiffer’s syndromes: more than a craniofacial abnormality. Plast Reconstr Surg. 1990;86:457–63.

    Article  PubMed  CAS  Google Scholar 

  11. Kakitsuba N, Sudaoka T, Motoyama S, et al. Sleep apnea and sleep disordered related breathing disorders in patients with craniofacial synostosis. Acta Otolaryngol. 1994;517(Suppl):6–10.

    Article  CAS  Google Scholar 

  12. Cohen MM, Kreiborg S. Upper and lower airway compromise in the Apert syndrome. Am J Med Genet. 1992;44:90–3.

    Article  PubMed  Google Scholar 

  13. Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck. New York: Oxford University Press; 1990.

    Google Scholar 

  14. Robin P. Glossoptosis due to atresia and hypotrophy of the mandible. Am J Dis Child. 1934;48:541–7.

    Google Scholar 

  15. Shprintzen RJ. The implications of the diagnosis of Robin sequence. Cleft Palate Craniofac J. 1992;29: 220–3.

    Article  Google Scholar 

  16. Benjamin B, Walker P. Management of airway obstruction in the Pierre Robin sequence. Int J Pediatr Otolaryngol. 1991;22:29–37.

    Article  CAS  Google Scholar 

  17. Sheer AE. Mechanisms of airway obstruction in Robin sequence: implications for treatment. Cleft Palate Craniofac. 1992;29:224–31.

    Article  Google Scholar 

  18. Bush PG, Williams AJ. Incidence of Robin anomalad (Pierre Robin syndrome). Br J Plast Surg. 1983;36:434.

    Article  PubMed  CAS  Google Scholar 

  19. Cohen MM. Discussion. Need for velopharyngeal management following palatoplasty; An outcome analysis of syndromic and nonsyndromic patients with Robin sequence. Plast Reconstr Surg. 1997;99:1530.

    Article  Google Scholar 

  20. Sadewitz VL. Robin sequence: Changes in thinking leading to changes in patient care. Cleft Palate Craniofac J. 1992;29:246.

    Article  PubMed  CAS  Google Scholar 

  21. Larson M, Hellquist R, Jakobsson OP. Dental abnormalities and ectopic eruption in patients with isolated cleft palate. Scand J Plast Reconstr Surg Hand Surg. 1998;32:203.

    Article  PubMed  CAS  Google Scholar 

  22. Carey JC, Fineman RM, Ziter FA. The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. J Pediatr. 1982;101:858.

    Article  PubMed  CAS  Google Scholar 

  23. Bull Mj, Givan DC, Sadove AM, et al. Improved outcome in Pierre Robin sequence: effect of multidisciplinary evaluation and management. Pediatrics. 1990; 86:294.

    PubMed  CAS  Google Scholar 

  24. Sher AE, Sphrintzen RJ, Thorpy MJ. Endoscopic observations of obstructive sleep apnea in children with anomalous upper airways: Predictive and therapeutic value. Int J Pediatr Otorhinolaryngol. 1986;11:135.

    Article  PubMed  CAS  Google Scholar 

  25. Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of TCS. Nat Genet. 1996;12:130–6.

    Article  Google Scholar 

  26. Posnick JC. Treacher Collins syndrome: perspectives in evaluation and treatment. J Oral Maxillofac Surg. 1997;55:1120.

    Article  PubMed  CAS  Google Scholar 

  27. Goldenhar M. Associations malformatives de l’oeil et l’oreille, en particulier le syndrome dermoide épibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum. 1952;1:243–82.

    Google Scholar 

  28. Gorlin RJ, Pindborg JJ. Oculoauriculovertebral dysplasia. In: Syndromes of the head and neck. New York: McGraw-Hill; 1964. p. 546–52

    Google Scholar 

  29. Grabb WC. The first and second brachial arch syndromes. Plast Reconstr Surg. 1965;36:485–508.

    Article  PubMed  CAS  Google Scholar 

  30. Bayraktar S, Bayraktar ST, Ataoglu E, Ayaz A, Elevli M. Goldenhar’s syndrome associated with multiple congenital anomalies. J Trop Paediatr. 2005;51: 377–9.

    Article  Google Scholar 

  31. Taksande A, Vilhekar KY, Jain M. Atypical presentation of Goldenhar syndrome. J MGIMS. 2006;11:45–52.

    Google Scholar 

  32. Sassouni V, Forrest E. Dentofacial pathology related to malocclusion. Orthodontics in dental practice. St Louis: Mosby; 1971. p. 169–97.

    Google Scholar 

  33. Bosely ME, Link DT, Shott SR, Fitton CM, Myer CM, Conton RT. Laryngotracheoplasty for subglottic stenosis in Down syndrome children: the Cincinnati experience. Int J Pediatr Otorhinolaryngol. 2001; 57(1):11–5.

    Article  Google Scholar 

  34. Goodman R, Gorlin R. The malformed infant and child: an illustrated guide. New York: Oxford University; 1983. p. 122–3.

    Google Scholar 

  35. Brown PM, Lewis GT, Parker AJ, Maw AR. The skull base and nasopharynx in Down syndrome in relation to hearing impairment. Clin Otolaryngol Head Neck Surg. 1996;122(9):945–50.

    Article  Google Scholar 

  36. Jacobs IN, Gray RF, Todd NW. Upper airway ­obstruction in children with Down syndrome. Arch Otolaryngol Head Neck Surg. 1996;122(9): 945–50.

    Article  PubMed  CAS  Google Scholar 

  37. Shott SR, Amin RS, Chini BA, Heubi S, Hotze S, Akers R. Obstructive sleep apnea – should children with Down syndrome be tested? Arch Otolaryngol Head Neck Surg. 2006;132:432–6.

    Article  PubMed  Google Scholar 

  38. Marcus CL, Keens TG, Bautista DB, von Pechmann WS, Ward SL. Obstructive sleep apnea in children with Down syndrome. Pediatrics. 1991;88(1): 132–9.

    PubMed  CAS  Google Scholar 

  39. Horton WA, Hecht JT. Disorders involving receptors in Nelson textbook of pediatrics. 17th ed. Philadelphia, PA: WB Saunders; 2004. p. 2328–30.

    Google Scholar 

  40. Shiang R, Thompson LM, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 case the most common genetic form of dwarfism, achondroplasia. Cell. 1994;78:335–42.

    Article  PubMed  CAS  Google Scholar 

  41. Stokes DC, Phillips JA, Leonard CO, et al. Respiratory complications of achondroplasia. J Pediatr. 1983;103: 534–41.

    Article  Google Scholar 

  42. Hunter AGW, Bankler A, Rogers JG, Silence D, Scott Jr CI. Medical complications of achondroplasia: a multicenter patient review. J Med Genet. 1998;35: 705–12.

    Article  PubMed  CAS  Google Scholar 

  43. Zucconi M, Weber G, Castronovo V, et al. Sleep and upper airway obstruction in children with achondroplasia. J Pediatr. 1996;129:743–9.

    Article  PubMed  CAS  Google Scholar 

  44. Lauritzen C, Lilja J, Jarlstedt J. Airway obstruction and sleep apnea in children with craniofacial anomalies. Plast Reconstr Surg. 1986;77:1–6.

    Article  PubMed  CAS  Google Scholar 

  45. Tajima S, Imai K. OSA attack in complex craniosynostosis. Acta Otolaryngol. 1994;517(Suppl):17–20.

    Article  CAS  Google Scholar 

  46. Singer L, Sidoti EJ. Pediatric management of Robin sequence. Cleft Palate Craniofac J. 1992;29:205.

    Article  Google Scholar 

  47. Kirschner RE, Low DW, Randal P, et al. Surgical airway management in Pierre Robin sequence: is there a role for tongue lip adhesion? Cleft Palate Carniofac J. 2003;40:13–8.

    Article  Google Scholar 

  48. Waganer S, Rayatt SS, Tatman AJ, et al. Management of infants with Pierre Robin sequence. Cleft Palate Craniofac J. 2003;40:181–5.

    Google Scholar 

  49. Douglas B. The treatment of micrognathia associated with obstruction by plastic procedure. Plast Reconstr Surg. 1946;1:300.

    Article  CAS  Google Scholar 

  50. Routledge RT. The Pierre Robin syndrome: a surgical emergency in the neonatal period. Br J Plast Surg. 1960;13:204.

    Article  PubMed  CAS  Google Scholar 

  51. Argamaso RV. Glossopexy for upper airway obstruction in Robin sequence. Cleft Palate Craniofac J. 1992;29:232.

    Article  PubMed  CAS  Google Scholar 

  52. LeBlanc SM, Golding-Kushner KJ. Effect of glossopexy on speech sound production in Robin sequence. Cleft Palate Craniofac J. 29:239, 199

    Google Scholar 

  53. McCarthy JG, Schreiber J, Karp N, et al. Lengthening of the human mandible by gradual distraction. Plast Reconstr Surg. 1992;89:1.

    Article  PubMed  CAS  Google Scholar 

  54. Myer CM, Reed JM, Colton RT, et al. Airway management in Pierre Robin sequence. Otolaryngol Head Neck Surg. 1998;1118:630–5.

    Article  Google Scholar 

  55. Cohen SR, Simms C, Burstein FD. Mandibular ­distraction osteogenesis in the treatment of upper airway obstruction in children with craniofacial deformities. Plast Reconstr Surg. 1998;101:312.

    Article  PubMed  CAS  Google Scholar 

  56. Sidman JD, Sampson D, Templeton B. Distraction osteogenesis of the mandible for airway obstruction in children. Laryngoscope. 2001;111:1137–46.

    Article  PubMed  CAS  Google Scholar 

  57. Denny A, Amm C. New technique for airway correction in neonates with severe Pierre Robin sequence. J Pediatr. 2005;147:97–101.

    Article  PubMed  Google Scholar 

  58. Merrell JA, Shott SR. OSAS in Down syndrome: T&A versus T&A plus lateral pharyngoplasty. Int J Pediatr Otolaryngol. 2007;71:1197–203.

    Article  Google Scholar 

  59. Lefaivre JF, Cohen SR, Burstein FD, et al. Down syndrome: identification and surgical management of OSA. Plast Reconstr Surg. 1997;99:629–37.

    Article  PubMed  CAS  Google Scholar 

  60. Fremion AS, Garg BP, Kalsbeck J. Apnea as the sole manifestation of cord compression in achondroplasia. J Pediatr. 1984;104:398–401.

    Article  PubMed  CAS  Google Scholar 

  61. Waters KA, Everett F, Sillence D, Fagan E, Sullivan CE. Treatment of OSA in achondroplastic evaluation of sleep, breathing and somatosensory-evoked potentials. Am J Med Genet. 1995;59:460–6.

    Article  PubMed  CAS  Google Scholar 

  62. Lauritzen C, Lilja J, Jaristedt J. Airway obstruction and sleep apnea in children with craniofacial anomalies. Plast Reconstr Surg. 1986;77:1–6.

    Article  PubMed  CAS  Google Scholar 

  63. Marcus CL, Ward SL, Mallory GB, et al. Use of CPAP as treatment of childhood OSA. J Pediatr. 1995;172: 88–94.

    Google Scholar 

  64. Sculerati N, Gootlieb MD, Zimbler MS, et al. Airway management in children with major craniofacial anomalies. Laryngoscope. 1998;108:1806–12.

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Wendy Estrellado-Cruz MD, FAAP .

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Estrellado-Cruz, W., Beckerman, R.C. (2012). Children with Craniofacial Syndromes. In: Kheirandish-Gozal, L., Gozal, D. (eds) Sleep Disordered Breathing in Children. Respiratory Medicine. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-725-9_25

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  • DOI: https://doi.org/10.1007/978-1-60761-725-9_25

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  • Publisher Name: Humana Press, Totowa, NJ

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  • Online ISBN: 978-1-60761-725-9

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