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Craniofacial Syndromes with Airway Anomalies: An Overview

Craniofacial Syndromes with Airway Anomalies: An Overview

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Disorders of the Neonatal Airway

Abstract

Neonates with craniofacial syndromes may present with more than one airway anomaly. When evaluating a neonate in respiratory distress, it is critical to assess for the anticipated abnormalities when a specific syndrome is suspected and to identify additional levels of potential obstruction. This chapter highlights the characteristic findings and airway management options for several craniofacial syndromes.

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References

  1. Acke FR, Dhooge IJ, Malfait F, De Leenheer EM. Hearing impairment in Stickler syndrome: a systematic review. Orphanet J Rare Dis. 2012;7:84. doi:10.1186/1750-1172-7-84.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Antón-Pacheco JL, Cano I, Comas J, Galletti L, Polo L, García A, López M, Cabezalí D. Management of congenital tracheal stenosis in infancy. Eur J Cardiothorac Surg. 2006;29(6):991–6. Epub 2006 May 3.

    Article  PubMed  Google Scholar 

  3. Apert syndrome. Genetics Home Reference. February 2008. Available from: http://ghr.nlm.nih.gov/condition/apert-syndrome. Accessed 3 Feb 2014.

  4. Apert syndrome. OMIM. Updated 5/16/2013. Available from: http://www.omim.org/entry/101200?search=apert&highlight=apert. Accessed 4 Feb 2014.

  5. Arlis H, Ward RF. Congenital nasal pyriform aperture stenosis. Isolated abnormality vs developmental field defect. Arch Otolaryngol Head Neck Surg. 1992;118(9):989–91.

    Article  CAS  PubMed  Google Scholar 

  6. Bannink N, Nout E, Wolvius EB, Hoeve HL, Joosten KF, Mathijssen IM. Obstructive sleep apnea in children with syndromic craniosynostosis: long-term respiratory outcome of midface advancement. Int J Oral Maxillofac Surg. 2010;39(2):115–21. doi:10.1016/j.ijom.2009.11.021.Epub2010Jan6.

    Article  CAS  PubMed  Google Scholar 

  7. Belden CJ, Mancuso AA, Schmalfuss IM. CT features of congenital nasal piriform aperture stenosis: initial experience. Radiology. 1999;213(2):495–501.

    Article  CAS  PubMed  Google Scholar 

  8. Bertrand P, Navarro H, Caussade S, Holmgren N, Sánchez I. Airway anomalies in children with down syndrome: endoscopic findings. Pediatr Pulmonol. 2003;36(2):137–41.

    Article  PubMed  Google Scholar 

  9. Birgfeld CB, Heike C. Craniofacial microsomia. Semin Plast Surg. 2012;26(2):91–104. doi:10.1055/s-0032-1320067.

    Article  PubMed  PubMed Central  Google Scholar 

  10. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, Lin AE, Graham Jr JM. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila). 1998;37(3):159–73.

    Article  CAS  Google Scholar 

  11. Bravo MN, Kaul A, Rutter MJ, Elluru RG. Down syndrome and complete tracheal rings. J Pediatr. 2006;148(3):392–5.

    Article  PubMed  Google Scholar 

  12. Brown OE, Myer 3rd CM, Manning SC. Congenital nasal pyriform aperture stenosis. Laryngoscope. 1989;99(1):86–91.

    Article  CAS  PubMed  Google Scholar 

  13. CHARGE syndrome. Genetics Home Reference. May 2008. Available from: http://ghr.nlm.nih.gov/condition/charge-syndrome. Accessed 3 Feb 2014.

  14. CHARGE syndrome. OMIM. Updated 8/30/2013. Available from: http://www.omim.org/entry/214800?search=charge&highlight=charge. Accessed 4 Feb 2014.

  15. Crouzon syndrome. Genetics Home Reference. May 2008. Available from: http://ghr.nlm.nih.gov/condition/crouzon-syndrome. Accessed 3 Feb 2014.

  16. Crouzon syndrome. OMIM. Updated 1/22/2011. Available from: http://www.omim.org/entry/123500. Accessed 4 Feb 2014.

  17. Devine P, Bhan I, Feingold M, Leonidas JC, Wolpert SM. Completely cartilaginous trachea in a child with Crouzon syndrome. Am J Dis Child. 1984;138(1):40–3.

    CAS  PubMed  Google Scholar 

  18. Down syndrome. Genetics Home Reference. February 2014. Available from: http://ghr.nlm.nih.gov/condition/down-syndrome. Accessed 11 Feb 2014.

  19. Heike CL, Hing AV. Craniofacial Microsomia Overview. 2009 Mar 19. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK5199/. Accessed 6 Feb 2014.

  20. Hockstein NG, McDonald-McGinn D, Zackai E, Bartlett S, Huff DS, Jacobs IN. Tracheal anomalies in Pfeiffer syndrome. Arch Otolaryngol Head Neck Surg. 2004;130(11):1298–302.

    Article  PubMed  Google Scholar 

  21. Horgan JE, Padwa BL, LaBrie RA, Mulliken JB. OMENS-Plus: analysis of craniofacial and extracraniofacial anomalies in hemifacial microsomia. Cleft Palate Craniofac J. 1995;32(5):405–12.

    Article  CAS  PubMed  Google Scholar 

  22. Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. In: Pagon RA, Adam MP, Bird TD, et al., (eds.) GeneReviews™ [Internet]. Seattle: University of Washington, Seattle; 1993–2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1532/. Accessed 4 Feb 2014.

  23. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007;14(3):150–61. Review.

    Article  PubMed  Google Scholar 

  24. Lalani SR, Hefner MA, Belmont JW, et al. CHARGE Syndrome. 2006 Oct 2 [Updated 2012 Feb 2]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1117/. Accessed 3 Feb 2014.

  25. Lertsburapa K, Schroeder Jr JW, Sullivan C. Tracheal cartilaginous sleeve in patients with craniosynostosis syndromes: a meta-analysis. J Pediatr Surg. 2010;45(7):1438–44. doi:10.1016/j.jpedsurg.2009.09.005.

    Article  PubMed  Google Scholar 

  26. McCarthy JG. Chapter 26: Craniofacial microsomia. In: Thorne CH, ed. Grabb & Smith’s plastic surgery. Available from: http://www.med.unc.edu/surgery/plastic/grabb/Chapter%2026.pdf. Accessed 6 Feb 2014.

  27. Naito Y, Higuchi M, Koinuma G, Aramaki M, Takahashi T, Kosaki K. Upper airway obstruction in neonates and infants with CHARGE syndrome. Am J Med Genet A. 2007;143A(16):1815–20.

    Article  PubMed  Google Scholar 

  28. Noorily MR, Farmer DL, Belenky WM, Philippart AI. Congenital tracheal anomalies in the craniosynostosis syndromes. J Pediatr Surg. 1999;34(6):1036–9.

    Article  CAS  PubMed  Google Scholar 

  29. Perkins JA, Sie KC, Milczuk H, Richardson MA. Airway management in children with craniofacial anomalies. Cleft Palate Craniofac J. 1997;34(2):135–40.

    Article  CAS  PubMed  Google Scholar 

  30. Pfeiffer syndrome. OMIM. Updated 5/24/2006. Available from: http://www.omim.org/entry/101600?search=pfeiffer&highlight=pfeiffer. Accessed 4 Feb 2014.

  31. Plomp RG, Bredero-Boelhouwer HH, Joosten KF, Wolvius EB, Hoeve HL, Poublon RM, Mathijssen IM. Obstructive sleep apnea in Treacher Collins syndrome: prevalence, severity and cause. Int J Oral Maxillofac Surg. 2012;41(6):696–701. doi:10.1016/j.ijom.2012.01.018.Epub2012Apr20.

    Article  CAS  PubMed  Google Scholar 

  32. Posnick JC. Treacher Collins syndrome: perspectives in evaluation and treatment. J Oral Maxillofac Surg. 1997;55(10):1120–33.

    Article  CAS  PubMed  Google Scholar 

  33. Poon CC, Meara JG, Heggie AA. Hemifacial microsomia: use of the OMENS-Plus classification at the Royal Children’s Hospital of Melbourne. Plast Reconstr Surg. 2003;111(3):1011–8.

    Article  PubMed  Google Scholar 

  34. Rachmiel A, Emodi O, Aizenbud D. Management of obstructive sleep apnea in pediatric craniofacial anomalies. Ann Maxillofac Surg. 2012;2(2):111–5. doi:10.4103/2231-0746.101329.

    Article  PubMed  PubMed Central  Google Scholar 

  35. Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-related Craniosynostosis syndromes. 1998 Oct 20 [Updated 2011 Jun 7]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1455/. Accessed 3 Feb 2014.

  36. Robin NH, Moran RT, Warman M, et al. Stickler Syndrome. 2000 Jun 9 [Updated 2011 Nov 3]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1302/. Accessed 4 Feb 2014.

  37. Rose PS, Levy HP, Liberfarb RM, Davis J, Szymko-Bennett Y, Rubin BI, Tsilou E, Griffith AJ, Francomano CA. Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Genet A. 2005;138A(3):199–207.

    Article  PubMed  Google Scholar 

  38. Sanlaville D, Verloes A. CHARGE syndrome: an update. Eur J Hum Genet. 2007;15(4):389–99. Epub 2007 Feb 14.

    Article  CAS  PubMed  Google Scholar 

  39. Sculerati N, Gottlieb MD, Zimbler MS, Chibbaro PD, McCarthy JG. Airway management in children with major craniofacial anomalies. Laryngoscope. 1998;108(12):1806–12.

    Article  CAS  PubMed  Google Scholar 

  40. Snead MP, Yates JR. Clinical and molecular genetics of Stickler syndrome. J Med Genet. 1999;36(5):353–9. Review.

    CAS  PubMed  PubMed Central  Google Scholar 

  41. Stickler syndrome. Genetics Home Reference. January 2013. Available from: http://ghr.nlm.nih.gov/condition/stickler-syndrome. Accessed 4 Feb 2014.

  42. Treacher Collins syndrome. Genetics Home Reference. June 2012. Available from: http://ghr.nlm.nih.gov/condition/treacher-collins-syndrome. Accessed 4 Feb 2014.

  43. Van Den Abbeele T, Triglia JM, François M, Narcy P. Congenital nasal pyriform aperture stenosis: diagnosis and management of 20 cases. Ann Otol Rhinol Laryngol. 2001;110(1):70–5.

    Article  Google Scholar 

  44. Vento AR, LaBrie RA, Mulliken JB. The O.M.E.N.S. classification of hemifacial microsomia. Cleft Palate Craniofac J. 1991;28(1):68–76; discussion 77.

    Article  CAS  PubMed  Google Scholar 

  45. Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J Rare Dis. 2006;1:19.

    Article  PubMed  PubMed Central  Google Scholar 

  46. Watts R, Vyas H. An overview of respiratory problems in children with Down’s syndrome. Arch Dis Child. 2013;98(10):812–7. doi:10.1136/archdischild-2013-304611. Epub 2013 Jun 27.

    Article  PubMed  Google Scholar 

  47. Wells TR, Landing BH, Shamszadeh M, Thompson JW, Bove KE, Caron KH. Association of Down syndrome and segmental tracheal stenosis with ring tracheal cartilages: a review of nine cases. Pediatr Pathol. 1992;12(5):673–82.

    Article  CAS  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Staff Otolaryngologist, Kaiser Permanente, Los Angeles, CA, USA

    Carolyn V. Nguyen

  2. Division of Otolaryngology, The Children’s Hospital of Philadelphia, Department of Otorhinolaryngology—Head and Neck Surgery, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA

    Luv R. Javia MD

Authors
  1. Carolyn V. Nguyen
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  2. Luv R. Javia MD
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Corresponding author

Correspondence to Luv R. Javia MD .

Editor information

Editors and Affiliations

  1. Attending Neonatologist, Director Neonatal Outreach, Medical Director, Neonatal Airway Program, The Children’s Hospital of Philadelphia, Associate Professor of Clinical Pediatrics, Department of Neonatology, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA

    Janet Lioy

  2. Attending Surgeon, Fellowship Director, Pediatric Otolaryngology, The Center for Pediatric Airway Disorders, The Children’s Hospital of Philadelphia, Associate Professor, Department of Otorhinolaryngology-Head and Neck Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA

    Steven E. Sobol

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Nguyen, C.V., Javia, L.R. (2015). Craniofacial Syndromes with Airway Anomalies: An Overview. In: Lioy, J., Sobol, S. (eds) Disorders of the Neonatal Airway. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-1610-8_2

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  • DOI: https://doi.org/10.1007/978-1-4939-1610-8_2

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-1609-2

  • Online ISBN: 978-1-4939-1610-8

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