Children with Craniofacial Syndromes

  • Wendy Estrellado-CruzEmail author
  • Robert C. Beckerman
Part of the Respiratory Medicine book series (RM)


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.


Obstructive Sleep Apnea Continuous Positive Airway Pressure Down Syndrome Airway Obstruction Obstructive Sleep Apnea Syndrome 
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.


  1. 1.
    Sher AE. Obstructive sleep apnea syndrome: a complex disorder of the upper airway. Otolaryngol Clin North Am. 1990;23:593.PubMedGoogle Scholar
  2. 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.PubMedGoogle Scholar
  3. 3.
    Ramakrishna S, Ingle VS, Patel S, et al. Reversible cardiopulmonary changes due to adenotonsillar hypertrophy. Int J Pediatr Otolaryngol. 2000;55:203–6.CrossRefGoogle Scholar
  4. 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.PubMedCrossRefGoogle Scholar
  5. 5.
    Jones KL. Smith’s recognizable patterns of human malformation. Philadelphia: Saunders; 1997. p. 416–21.Google Scholar
  6. 6.
    Cohen Jr MM. Craniosynostosis: diagnosis, evaluation and management. New York: Raven Press; 1986.Google Scholar
  7. 7.
    Peterson-Falzone SJ, Pruzansky S, Parris PJ, Laffer JL. Nasopharyngeal dysmorphology in Apert and Crouzon. Cleft Palate J. 1981;18:237–50.PubMedGoogle Scholar
  8. 8.
    Blank CE. Apert’s syndrome—observations on a British series of thirty nine cases. Ann Hum Genet. 1960;24:151–64.PubMedCrossRefGoogle Scholar
  9. 9.
    Peterson SJ, Pruzansky S. Palatal anomalies in the syndromes of Apert and Crouzon. Cleft Palate J. 1974;11:394–403.PubMedGoogle Scholar
  10. 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.PubMedCrossRefGoogle Scholar
  11. 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.CrossRefGoogle Scholar
  12. 12.
    Cohen MM, Kreiborg S. Upper and lower airway compromise in the Apert syndrome. Am J Med Genet. 1992;44:90–3.PubMedCrossRefGoogle Scholar
  13. 13.
    Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck. New York: Oxford University Press; 1990.Google Scholar
  14. 14.
    Robin P. Glossoptosis due to atresia and hypotrophy of the mandible. Am J Dis Child. 1934;48:541–7.Google Scholar
  15. 15.
    Shprintzen RJ. The implications of the diagnosis of Robin sequence. Cleft Palate Craniofac J. 1992;29: 220–3.CrossRefGoogle Scholar
  16. 16.
    Benjamin B, Walker P. Management of airway obstruction in the Pierre Robin sequence. Int J Pediatr Otolaryngol. 1991;22:29–37.CrossRefGoogle Scholar
  17. 17.
    Sheer AE. Mechanisms of airway obstruction in Robin sequence: implications for treatment. Cleft Palate Craniofac. 1992;29:224–31.CrossRefGoogle Scholar
  18. 18.
    Bush PG, Williams AJ. Incidence of Robin anomalad (Pierre Robin syndrome). Br J Plast Surg. 1983;36:434.PubMedCrossRefGoogle Scholar
  19. 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.CrossRefGoogle Scholar
  20. 20.
    Sadewitz VL. Robin sequence: Changes in thinking leading to changes in patient care. Cleft Palate Craniofac J. 1992;29:246.PubMedCrossRefGoogle Scholar
  21. 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.PubMedCrossRefGoogle Scholar
  22. 22.
    Carey JC, Fineman RM, Ziter FA. The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. J Pediatr. 1982;101:858.PubMedCrossRefGoogle Scholar
  23. 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.PubMedGoogle Scholar
  24. 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.PubMedCrossRefGoogle Scholar
  25. 25.
    Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of TCS. Nat Genet. 1996;12:130–6.CrossRefGoogle Scholar
  26. 26.
    Posnick JC. Treacher Collins syndrome: perspectives in evaluation and treatment. J Oral Maxillofac Surg. 1997;55:1120.PubMedCrossRefGoogle Scholar
  27. 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. 28.
    Gorlin RJ, Pindborg JJ. Oculoauriculovertebral dysplasia. In: Syndromes of the head and neck. New York: McGraw-Hill; 1964. p. 546–52Google Scholar
  29. 29.
    Grabb WC. The first and second brachial arch syndromes. Plast Reconstr Surg. 1965;36:485–508.PubMedCrossRefGoogle Scholar
  30. 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.CrossRefGoogle Scholar
  31. 31.
    Taksande A, Vilhekar KY, Jain M. Atypical presentation of Goldenhar syndrome. J MGIMS. 2006;11:45–52.Google Scholar
  32. 32.
    Sassouni V, Forrest E. Dentofacial pathology related to malocclusion. Orthodontics in dental practice. St Louis: Mosby; 1971. p. 169–97.Google Scholar
  33. 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.CrossRefGoogle Scholar
  34. 34.
    Goodman R, Gorlin R. The malformed infant and child: an illustrated guide. New York: Oxford University; 1983. p. 122–3.Google Scholar
  35. 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.CrossRefGoogle Scholar
  36. 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.PubMedCrossRefGoogle Scholar
  37. 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.PubMedCrossRefGoogle Scholar
  38. 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.PubMedGoogle Scholar
  39. 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. 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.PubMedCrossRefGoogle Scholar
  41. 41.
    Stokes DC, Phillips JA, Leonard CO, et al. Respiratory complications of achondroplasia. J Pediatr. 1983;103: 534–41.CrossRefGoogle Scholar
  42. 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.PubMedCrossRefGoogle Scholar
  43. 43.
    Zucconi M, Weber G, Castronovo V, et al. Sleep and upper airway obstruction in children with achondroplasia. J Pediatr. 1996;129:743–9.PubMedCrossRefGoogle Scholar
  44. 44.
    Lauritzen C, Lilja J, Jarlstedt J. Airway obstruction and sleep apnea in children with craniofacial anomalies. Plast Reconstr Surg. 1986;77:1–6.PubMedCrossRefGoogle Scholar
  45. 45.
    Tajima S, Imai K. OSA attack in complex craniosynostosis. Acta Otolaryngol. 1994;517(Suppl):17–20.CrossRefGoogle Scholar
  46. 46.
    Singer L, Sidoti EJ. Pediatric management of Robin sequence. Cleft Palate Craniofac J. 1992;29:205.CrossRefGoogle Scholar
  47. 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.CrossRefGoogle Scholar
  48. 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. 49.
    Douglas B. The treatment of micrognathia associated with obstruction by plastic procedure. Plast Reconstr Surg. 1946;1:300.CrossRefGoogle Scholar
  50. 50.
    Routledge RT. The Pierre Robin syndrome: a surgical emergency in the neonatal period. Br J Plast Surg. 1960;13:204.PubMedCrossRefGoogle Scholar
  51. 51.
    Argamaso RV. Glossopexy for upper airway obstruction in Robin sequence. Cleft Palate Craniofac J. 1992;29:232.PubMedCrossRefGoogle Scholar
  52. 52.
    LeBlanc SM, Golding-Kushner KJ. Effect of glossopexy on speech sound production in Robin sequence. Cleft Palate Craniofac J. 29:239, 199Google Scholar
  53. 53.
    McCarthy JG, Schreiber J, Karp N, et al. Lengthening of the human mandible by gradual distraction. Plast Reconstr Surg. 1992;89:1.PubMedCrossRefGoogle Scholar
  54. 54.
    Myer CM, Reed JM, Colton RT, et al. Airway management in Pierre Robin sequence. Otolaryngol Head Neck Surg. 1998;1118:630–5.CrossRefGoogle Scholar
  55. 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.PubMedCrossRefGoogle Scholar
  56. 56.
    Sidman JD, Sampson D, Templeton B. Distraction osteogenesis of the mandible for airway obstruction in children. Laryngoscope. 2001;111:1137–46.PubMedCrossRefGoogle Scholar
  57. 57.
    Denny A, Amm C. New technique for airway correction in neonates with severe Pierre Robin sequence. J Pediatr. 2005;147:97–101.PubMedCrossRefGoogle Scholar
  58. 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.CrossRefGoogle Scholar
  59. 59.
    Lefaivre JF, Cohen SR, Burstein FD, et al. Down syndrome: identification and surgical management of OSA. Plast Reconstr Surg. 1997;99:629–37.PubMedCrossRefGoogle Scholar
  60. 60.
    Fremion AS, Garg BP, Kalsbeck J. Apnea as the sole manifestation of cord compression in achondroplasia. J Pediatr. 1984;104:398–401.PubMedCrossRefGoogle Scholar
  61. 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.PubMedCrossRefGoogle Scholar
  62. 62.
    Lauritzen C, Lilja J, Jaristedt J. Airway obstruction and sleep apnea in children with craniofacial anomalies. Plast Reconstr Surg. 1986;77:1–6.PubMedCrossRefGoogle Scholar
  63. 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. 64.
    Sculerati N, Gootlieb MD, Zimbler MS, et al. Airway management in children with major craniofacial anomalies. Laryngoscope. 1998;108:1806–12.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  1. 1.Section of Pediatric Pulmonary and Sleep Medicine, Department of PediatricsChildren’s Mercy Hospital and Clinics, UMKC School of MedicineKansas CityUSA

Personalised recommendations