Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-76dd75c94c-28gj6 Total loading time: 0 Render date: 2024-04-30T09:52:07.879Z Has data issue: false hasContentIssue false

10 - Congenital Abnormalities and Syndromes

from Section 1 - Newborn and Infant Physiology for Anesthetic Management

Published online by Cambridge University Press:  09 February 2018

By
Katherine R. Gentry  and
Anne M. Lynn
Edited by
Mary Ellen McCann
Edited in association with
Christine Greco  and
Kai Matthes
Mary Ellen McCann
Affiliation:
Harvard Medical School, Boston, MA, USA
Christine Greco
Affiliation:
Harvard Medical School, Boston, MA, USA
Kai Matthes
Affiliation:
Harvard Medical School, Boston, MA, USA
Get access

Summary

A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Essentials of Anesthesia for Infants and Neonates , pp. 76 - 90
Publisher: Cambridge University Press
Print publication year: 2018

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1.Bissonette, B, Luginbuehl, I, Marciniak, B, Dalens, B, editors. Syndromes: Rapid Recognition and Perioperative Implications. New York: McGraw-Hill; 2006.Google Scholar
2.Ostermaier, K. Down Syndrome: Clinical Features and Diagnosis. UpToDate®; 2013.Google Scholar
3.Shott, SR. Down syndrome: analysis of airway size and a guide for appropriate intubation. Laryngoscope. 2000;110(4):585–92.CrossRefGoogle Scholar
4.Shott, SR. Down syndrome: common otolaryngologic manifestations. Am J Med Genet C Semin Med Genet. 2006;142C(3):131–40.CrossRefGoogle ScholarPubMed
5.Kraemer, FW, Stricker, PA, Gurnaney, HG, et al. Bradycardia during induction of anesthesia with sevoflurane in children with Down syndrome. Anesth Analg. 2010;111(5):1259–63.Google Scholar
6.McDonald-McGinn, D, Emanuel, B, Zackai, E. 22q11.2 deletion syndrome. GeneReviews® 1999, updated 2013.Google Scholar
7.Tassabehji, M. Williams–Beuren syndrome: a challenge for genotype–phenotype correlations. Hum Mol Genet. 2003;2:R229–37.Google Scholar
8.Schubert, C. The genomic basis of the Williams–Beuren syndrome. Cell Mol Life Sci. 2009;66(7):1178–97.CrossRefGoogle ScholarPubMed
9.Strømme, P, Bjørnstad, PG, Ramstad, K. Prevalence estimation of Williams syndrome. J Child Neurol. 2002;17(4):269–71.Google Scholar
10.Morris, C. Williams Syndrome. GeneReviews®, 1999, updated 2013.Google Scholar
11.Wessel, A, Gravenhorst, V, Buchhorn, R, et al. Risk of sudden death in the Williams–Beuren syndrome. Am J Med Genet A. 2004;127A(3):234–7.Google Scholar
12.Gupta, P, Tobias, JD, Goyal, S, et al. Sudden cardiac death under anesthesia in pediatric patient with Williams syndrome: a case report and review of literature. Ann Card Anaesth. 2010;13(1):44–8.Google Scholar
13.Bird, LM, Billman, GF, Lacro, RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr. 1996;129(6):926–31.CrossRefGoogle ScholarPubMed
14.Allanson, J, Roberts, A. Noonan syndrome. GeneReviews®, 2001, updated 2011.Google Scholar
15.Derbent, M, Öncel, Y, Tokel, K, et al. Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. Am J Med Genet A. 2010;152A(11):2768–74.Google Scholar
16.Shuman, C, Beckwith, J, Smith, A, et al. Beckwith–Wiedemann syndrome. GeneReviews®, 2001, updated 2010.Google Scholar
17.Tomatsu, S, Fujii, T, Fukushi, M, et al. Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab. 2013;110(1–2):42–53.CrossRefGoogle ScholarPubMed
18.Wraith, JE. Mucopolysaccharidoses and mucolipidoses. Handb Clin Neurol. 2013;113:1723–9.Google Scholar
19.Clarke, L, Heppner, J. Mucopolysaccharidosis type I. GeneReviews®, 2002, updated 2011.Google Scholar
20.Valayannopoulos, V, Wijburg, FA. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(Suppl. 5):v49–59.CrossRefGoogle ScholarPubMed
21.Jungbluth, H. Central core disease. Orphanet J Rare Dis. 2007;2:25.Google Scholar
22.Bamshad, M, Van Heest, AE, Pleasure, D. Arthrogryposis: a review and update. J Bone Joint Surg Am. 2009;91(Suppl 4):40–6.Google Scholar
23.Benca, J, Hogan, K. Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options. Anesth Analg. 2009;109(4):1049–53.Google Scholar
24.Willschke, H, Bosenberg, A, Marhofer, P, et al. Epidural catheter placement in neonates: sonoanatomy and feasibility of ultrasonographic guidance in term and preterm neonates. Reg Anesth Pain Med. 2007;32(1):34–40.Google Scholar
25.Derderian, C, Seaward, J. Syndromic craniosynostosis. Semin Plast Surg. 2012;26(2):64–75.Google ScholarPubMed
26.Robin, N, Falk, M, Haldeman-Englert, C. FGFR-related craniosynostosis syndromes. GeneReviews®, 1998, updated 2011.Google Scholar
27.Goobie, SM, Meier, PM, Pereira, LM, et al. Efficacy of tranexamic acid in pediatric craniosynostosis surgery: a double-blind, placebo-controlled trial. Anesthesiology. 2011;114(4):862–71.CrossRefGoogle ScholarPubMed
28.Goobie, S. The case for the use of tranexamic acid. Paediatr Anaesth. 2013;23(3):281–4.Google Scholar
29.Jakobsen, LP, Knudsen, MA, Lespinasse, J, et al. The genetic basis of the Pierre Robin sequence. Cleft Palate Craniofac J. 2006;43(2):155–9.Google Scholar
30.Fiadjoe, JE, Stricker, PA. The air-Q intubating laryngeal airway in neonates with difficult airways. Paediatr Anaesth. 2011;21(6):702–3.Google Scholar
31.Marston, AP, Lander, TA, Tibesar, RJ, Sidman, JD. Airway management for intubation in newborns with Pierre Robin sequence. Laryngoscope. 2012;122(6):1401–4.CrossRefGoogle ScholarPubMed
32.Katsanis, S, Jabs, E. Treacher Collins syndrome. GeneReviews®, 2004, updated 2012.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×