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
Sher AE. Obstructive sleep apnea syndrome: a complex disorder of the upper airway. Otolaryngol Clin North Am. 1990;23:593.
Marcus CL, Greene MG, Caroll JL. Blood pressure in children with obstructive sleep apnea. Am J Respir Crit Care Med. 1998;157:1098–103.
Ramakrishna S, Ingle VS, Patel S, et al. Reversible cardiopulmonary changes due to adenotonsillar hypertrophy. Int J Pediatr Otolaryngol. 2000;55:203–6.
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.
Jones KL. Smith’s recognizable patterns of human malformation. Philadelphia: Saunders; 1997. p. 416–21.
Cohen Jr MM. Craniosynostosis: diagnosis, evaluation and management. New York: Raven Press; 1986.
Peterson-Falzone SJ, Pruzansky S, Parris PJ, Laffer JL. Nasopharyngeal dysmorphology in Apert and Crouzon. Cleft Palate J. 1981;18:237–50.
Blank CE. Apert’s syndrome—observations on a British series of thirty nine cases. Ann Hum Genet. 1960;24:151–64.
Peterson SJ, Pruzansky S. Palatal anomalies in the syndromes of Apert and Crouzon. Cleft Palate J. 1974;11:394–403.
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.
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.
Cohen MM, Kreiborg S. Upper and lower airway compromise in the Apert syndrome. Am J Med Genet. 1992;44:90–3.
Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck. New York: Oxford University Press; 1990.
Robin P. Glossoptosis due to atresia and hypotrophy of the mandible. Am J Dis Child. 1934;48:541–7.
Shprintzen RJ. The implications of the diagnosis of Robin sequence. Cleft Palate Craniofac J. 1992;29: 220–3.
Benjamin B, Walker P. Management of airway obstruction in the Pierre Robin sequence. Int J Pediatr Otolaryngol. 1991;22:29–37.
Sheer AE. Mechanisms of airway obstruction in Robin sequence: implications for treatment. Cleft Palate Craniofac. 1992;29:224–31.
Bush PG, Williams AJ. Incidence of Robin anomalad (Pierre Robin syndrome). Br J Plast Surg. 1983;36:434.
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.
Sadewitz VL. Robin sequence: Changes in thinking leading to changes in patient care. Cleft Palate Craniofac J. 1992;29:246.
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.
Carey JC, Fineman RM, Ziter FA. The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. J Pediatr. 1982;101:858.
Bull Mj, Givan DC, Sadove AM, et al. Improved outcome in Pierre Robin sequence: effect of multidisciplinary evaluation and management. Pediatrics. 1990; 86:294.
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.
Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of TCS. Nat Genet. 1996;12:130–6.
Posnick JC. Treacher Collins syndrome: perspectives in evaluation and treatment. J Oral Maxillofac Surg. 1997;55:1120.
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.
Gorlin RJ, Pindborg JJ. Oculoauriculovertebral dysplasia. In: Syndromes of the head and neck. New York: McGraw-Hill; 1964. p. 546–52
Grabb WC. The first and second brachial arch syndromes. Plast Reconstr Surg. 1965;36:485–508.
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.
Taksande A, Vilhekar KY, Jain M. Atypical presentation of Goldenhar syndrome. J MGIMS. 2006;11:45–52.
Sassouni V, Forrest E. Dentofacial pathology related to malocclusion. Orthodontics in dental practice. St Louis: Mosby; 1971. p. 169–97.
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.
Goodman R, Gorlin R. The malformed infant and child: an illustrated guide. New York: Oxford University; 1983. p. 122–3.
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.
Jacobs IN, Gray RF, Todd NW. Upper airway obstruction in children with Down syndrome. Arch Otolaryngol Head Neck Surg. 1996;122(9): 945–50.
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.
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.
Horton WA, Hecht JT. Disorders involving receptors in Nelson textbook of pediatrics. 17th ed. Philadelphia, PA: WB Saunders; 2004. p. 2328–30.
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.
Stokes DC, Phillips JA, Leonard CO, et al. Respiratory complications of achondroplasia. J Pediatr. 1983;103: 534–41.
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.
Zucconi M, Weber G, Castronovo V, et al. Sleep and upper airway obstruction in children with achondroplasia. J Pediatr. 1996;129:743–9.
Lauritzen C, Lilja J, Jarlstedt J. Airway obstruction and sleep apnea in children with craniofacial anomalies. Plast Reconstr Surg. 1986;77:1–6.
Tajima S, Imai K. OSA attack in complex craniosynostosis. Acta Otolaryngol. 1994;517(Suppl):17–20.
Singer L, Sidoti EJ. Pediatric management of Robin sequence. Cleft Palate Craniofac J. 1992;29:205.
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.
Waganer S, Rayatt SS, Tatman AJ, et al. Management of infants with Pierre Robin sequence. Cleft Palate Craniofac J. 2003;40:181–5.
Douglas B. The treatment of micrognathia associated with obstruction by plastic procedure. Plast Reconstr Surg. 1946;1:300.
Routledge RT. The Pierre Robin syndrome: a surgical emergency in the neonatal period. Br J Plast Surg. 1960;13:204.
Argamaso RV. Glossopexy for upper airway obstruction in Robin sequence. Cleft Palate Craniofac J. 1992;29:232.
LeBlanc SM, Golding-Kushner KJ. Effect of glossopexy on speech sound production in Robin sequence. Cleft Palate Craniofac J. 29:239, 199
McCarthy JG, Schreiber J, Karp N, et al. Lengthening of the human mandible by gradual distraction. Plast Reconstr Surg. 1992;89:1.
Myer CM, Reed JM, Colton RT, et al. Airway management in Pierre Robin sequence. Otolaryngol Head Neck Surg. 1998;1118:630–5.
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.
Sidman JD, Sampson D, Templeton B. Distraction osteogenesis of the mandible for airway obstruction in children. Laryngoscope. 2001;111:1137–46.
Denny A, Amm C. New technique for airway correction in neonates with severe Pierre Robin sequence. J Pediatr. 2005;147:97–101.
Merrell JA, Shott SR. OSAS in Down syndrome: T&A versus T&A plus lateral pharyngoplasty. Int J Pediatr Otolaryngol. 2007;71:1197–203.
Lefaivre JF, Cohen SR, Burstein FD, et al. Down syndrome: identification and surgical management of OSA. Plast Reconstr Surg. 1997;99:629–37.
Fremion AS, Garg BP, Kalsbeck J. Apnea as the sole manifestation of cord compression in achondroplasia. J Pediatr. 1984;104:398–401.
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.
Lauritzen C, Lilja J, Jaristedt J. Airway obstruction and sleep apnea in children with craniofacial anomalies. Plast Reconstr Surg. 1986;77:1–6.
Marcus CL, Ward SL, Mallory GB, et al. Use of CPAP as treatment of childhood OSA. J Pediatr. 1995;172: 88–94.
Sculerati N, Gootlieb MD, Zimbler MS, et al. Airway management in children with major craniofacial anomalies. Laryngoscope. 1998;108:1806–12.
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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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