Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.
Best practice
Craniofacial
Otolaryngology
Skeletal dysplasia
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
14 01 2021
14 01 2021
Historique:
received:
17
08
2020
accepted:
05
01
2021
entrez:
15
1
2021
pubmed:
16
1
2021
medline:
22
6
2021
Statut:
epublish
Résumé
Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidence-based clinical decision making. Using the Delphi method, an international, multi-disciplinary group of individuals, with significant experience in the care of patients with skeletal dysplasia, convened to develop multi-disciplinary, best practice guidelines in the management of craniofacial aspects of these patients. After a comprehensive literature review, 23 initial statements were generated and critically discussed, with subsequent development of a list of 22 best practice guidelines after a second round voting. The guidelines are presented and discussed to provide context and assistance for clinicians in their decision making in this important and challenging component of care for patients with skeletal dysplasia, in order standardize care and improve outcomes.
Sections du résumé
BACKGROUND
Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidence-based clinical decision making.
METHODS
Using the Delphi method, an international, multi-disciplinary group of individuals, with significant experience in the care of patients with skeletal dysplasia, convened to develop multi-disciplinary, best practice guidelines in the management of craniofacial aspects of these patients.
RESULTS
After a comprehensive literature review, 23 initial statements were generated and critically discussed, with subsequent development of a list of 22 best practice guidelines after a second round voting.
CONCLUSIONS
The guidelines are presented and discussed to provide context and assistance for clinicians in their decision making in this important and challenging component of care for patients with skeletal dysplasia, in order standardize care and improve outcomes.
Identifiants
pubmed: 33446226
doi: 10.1186/s13023-021-01678-8
pii: 10.1186/s13023-021-01678-8
pmc: PMC7809733
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
31Références
MMWR Morb Mortal Wkly Rep. 2010 Mar 5;59(8):220-3
pubmed: 20203554
Vital Health Stat 10. 2014 Feb;(260):1-161
pubmed: 24819891
Adv Pediatr. 2004;51:209-29
pubmed: 15366775
Orphanet J Rare Dis. 2019 Jun 18;14(1):145
pubmed: 31215497
J Clin Sleep Med. 2019 Feb 04;15(2):335-343
pubmed: 30736887
Eur J Oral Sci. 2018 Oct;126 Suppl 1:72-80
pubmed: 30178560
Semin Fetal Neonatal Med. 2016 Aug;21(4):254-62
pubmed: 26997148
Eur J Hum Genet. 2016 Jul;24(7):992-1000
pubmed: 26626311
Arch Dis Child. 1998 Aug;79(2):99-108
pubmed: 9797588
Genet Med. 2019 Sep;21(9):2070-2080
pubmed: 30696995
Int J Pediatr Otorhinolaryngol. 2011 May;75(5):713-5
pubmed: 21414669
Am J Med Genet A. 2014 Feb;164A(2):407-14
pubmed: 24311312
J Craniofac Surg. 2017 Jun;28(4):1068-1070
pubmed: 28538061
J Laryngol Otol. 2006 Mar;120(3):233-6
pubmed: 16359148
Arch Intern Med. 2011 Nov 14;171(20):1851-2
pubmed: 22083573
Ann Otol Rhinol Laryngol. 2015 Mar;124(3):198-205
pubmed: 25214650
Clin Perinatol. 2015 Jun;42(2):301-19, viii
pubmed: 26042906
Paediatr Respir Rev. 2013 Dec;14(4):250-5
pubmed: 23523391
Am J Med Genet A. 2017 Oct;173(10):2584-2595
pubmed: 28763154
Arch Otolaryngol Head Neck Surg. 2011 Dec;137(12):1236-9
pubmed: 22183904
J Craniofac Surg. 2018 Nov;29(8):2186-2191
pubmed: 30277952
Am J Med Genet A. 2017 Apr;173(4):868-878
pubmed: 28239978
Clin Dysmorphol. 2008 Oct;17(4):229-41
pubmed: 18978650
Orphanet J Rare Dis. 2015 Apr 10;10:42
pubmed: 25887468
Am J Med Genet A. 2019 Dec;179(12):2393-2419
pubmed: 31633310
Clinics (Sao Paulo). 2018 Dec 03;73:e523
pubmed: 30517303
Eur J Hum Genet. 2003 Mar;11(3):265-70
pubmed: 12673280
Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):944-9
pubmed: 24731921
Am J Med Genet A. 2020 Apr;182(4):697-704
pubmed: 31876392
Am J Med Genet A. 2016 Jan;170A(1):32-41
pubmed: 26394798
Ital J Pediatr. 2018 Nov 16;44(Suppl 2):127
pubmed: 30442170
Pediatrics. 2013 Mar;131(3):e964-99
pubmed: 23439909
Am J Otolaryngol. 1997 Jan-Feb;18(1):69-71
pubmed: 9006681
Arch Pediatr Adolesc Med. 2009 Jan;163(1):19-26
pubmed: 19124699
J Clin Sleep Med. 2015 Jan 15;11(1):37-43
pubmed: 25515281
Orphanet J Rare Dis. 2019 Jan 3;14(1):1
pubmed: 30606190
Radiology. 1970 Feb;94(2):313-22
pubmed: 5412797
Hum Mutat. 2001 Mar;17(3):159-71
pubmed: 11241838
J Clin Sleep Med. 2017 Mar 15;13(3):479-504
pubmed: 28162150
Am J Med Genet A. 2015 Mar;167A(3):461-75
pubmed: 25604898
Otolaryngol Head Neck Surg. 2019 Feb;160(1_suppl):S1-S42
pubmed: 30798778
Int J Pediatr Otorhinolaryngol. 2017 Oct;101:223-229
pubmed: 28964299
Aust Dent J. 2003 Sep;48(3):156-68
pubmed: 14640368
Otolaryngol Clin North Am. 2012 Jun;45(3):579-98, vii
pubmed: 22588038
Int J Pediatr Otorhinolaryngol. 1999 May 5;48(2):169-74
pubmed: 10375043
J Dent Res. 2014 Jul;93(7 Suppl):7S-19S
pubmed: 24700690
Int J Pediatr Otorhinolaryngol. 2019 Aug;123:57-62
pubmed: 31075707
J Nat Sci Biol Med. 2013 Jan;4(1):245-9
pubmed: 23633875
Int J Neonatal Screen. 2019 Jan 18;5(1):7
pubmed: 33072967
Eur Respir Rev. 2013 Sep 1;22(129):325-32
pubmed: 23997060
Arch Otolaryngol Head Neck Surg. 2007 Mar;133(3):237-44
pubmed: 17372080
Acta Otorrinolaringol Esp. 2017 Sep - Oct;68(5):262-268
pubmed: 28223066
Am J Med Genet A. 2013 Aug;161A(8):2088-94
pubmed: 23840040
Int J Pediatr Otorhinolaryngol. 2007 Apr;71(4):523-6
pubmed: 17239447
Childs Nerv Syst. 2015 Jan;31(1):129-33
pubmed: 25249421
Am J Hum Genet. 2000 Feb;66(2):368-77
pubmed: 10677296
J Inherit Metab Dis. 2013 Mar;36(2):201-10
pubmed: 23151682
J Med Genet. 1998 Sep;35(9):705-12
pubmed: 9733026
Curr Osteoporos Rep. 2017 Dec;15(6):588-592
pubmed: 28965204
Otolaryngol Head Neck Surg. 2013 Jul;149(1 Suppl):S1-35
pubmed: 23818543
Otolaryngol Clin North Am. 2014 Oct;47(5):651-72
pubmed: 25213276
Am Fam Physician. 1999 Nov 15;60(8):2289-96
pubmed: 10593320
Pediatrics. 2007 Oct;120(4):898-921
pubmed: 17908777
Int J Paediatr Dent. 2006 Jul;16(4):286-91
pubmed: 16759327
Int J Pediatr Otorhinolaryngol. 1981 Apr;3(2):129-35
pubmed: 7287315
Eur J Med Genet. 2019 Nov;62(11):103573
pubmed: 30423444
Otolaryngol Head Neck Surg. 1999 Feb;120(2):248-54
pubmed: 9949360
J Laryngol Otol. 2015 Jul;129(7):634-7
pubmed: 26072959
J Clin Sleep Med. 2017 Oct 15;13(10):1199-1203
pubmed: 28877820
Am J Med Genet A. 2012 Jul;158A(7):1551-5
pubmed: 22628261
Otolaryngol Head Neck Surg. 2016 Feb;154(1 Suppl):S1-S41
pubmed: 26832942
Pediatrics. 2009 Oct;124(4):1252-63
pubmed: 19786460
Eur Rev Med Pharmacol Sci. 2015 Sep;19(17):3309-17
pubmed: 26400539
JAMA. 2000 Dec 20;284(23):3015-21
pubmed: 11122588
Pediatrics. 2012 Sep;130(3):576-84
pubmed: 22926173
J Clin Sleep Med. 2020 Jan 15;16(1):41-48
pubmed: 31957650
Arch Dis Child. 1969 Aug;44(236):490-8
pubmed: 5803642
Eur J Med Genet. 2008 Sep-Oct;51(5):383-408
pubmed: 18599376