What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.


Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
12 01 2023
Historique:
received: 10 12 2022
revised: 05 01 2023
accepted: 10 01 2023
entrez: 21 1 2023
pubmed: 22 1 2023
medline: 25 1 2023
Statut: epublish

Résumé

Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 (

Identifiants

pubmed: 36672940
pii: genes14010199
doi: 10.3390/genes14010199
pmc: PMC9858955
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Références

J Craniofac Surg. 2018 Nov;29(8):2186-2191
pubmed: 30277952
Am J Med Genet A. 2007 Nov 1;143A(21):2502-11
pubmed: 17879967
Genet Med. 2021 Dec;23(12):2443-2447
pubmed: 34341520
Am J Med Genet. 2001 Jun 1;101(1):40-5
pubmed: 11343336
Otolaryngol Head Neck Surg. 1999 Feb;120(2):248-54
pubmed: 9949360
J Clin Endocrinol Metab. 2009 Oct;94(10):3959-63
pubmed: 19622626
Genet Med. 2021 Apr;23(4):732-739
pubmed: 33204020
Am J Orthod Dentofacial Orthop. 2017 Apr;151(4):793-803
pubmed: 28364903
Int J Clin Pediatr Dent. 2021 Mar-Apr;14(2):298-303
pubmed: 34413610
Am J Med Genet. 1995 Nov 6;59(2):209-17
pubmed: 8588588
PLoS One. 2018 Apr 13;13(4):e0195876
pubmed: 29652901
Arch Dis Child. 1998 Aug;79(2):99-108
pubmed: 9797588
Paediatr Anaesth. 2007 Jan;17(1):75-9
pubmed: 17184438
Acta Radiol. 2022 Dec;63(12):1703-1711
pubmed: 34779271
Am J Med Genet A. 2014 Feb;164A(2):407-14
pubmed: 24311312
PLoS One. 2019 Mar 19;14(3):e0213806
pubmed: 30889196
Int J Mol Sci. 2021 May 25;22(11):
pubmed: 34070375
Nat Rev Endocrinol. 2022 Mar;18(3):173-189
pubmed: 34837063
J Neuroimaging. 2022 Sep;32(5):884-893
pubmed: 35691933
Am J Med Genet A. 2022 May;188(5):1435-1442
pubmed: 35106923
J Child Neurol. 1990 Apr;5(2):84-97
pubmed: 2161033
Am J Med Genet A. 2019 Sep;179(9):1745-1755
pubmed: 31240834
Eur Ann Otorhinolaryngol Head Neck Dis. 2012 Oct;129(5):257-63
pubmed: 23078980
Minerva Pediatr. 2019 Aug;71(4):343-348
pubmed: 26899672
World J Orthop. 2013 Oct 18;4(4):167-74
pubmed: 24147251
Respir Med. 2017 Oct;131:18-26
pubmed: 28947027
Prenat Diagn. 2009 Jul;29(7):697-702
pubmed: 19399756
Am J Med Genet A. 2008 Sep 15;146A(18):2385-9
pubmed: 18698630
Am J Med Genet. 1981;9(1):19-23
pubmed: 7246617
Birth Defects Res A Clin Mol Teratol. 2010 Apr;88(4):228-31
pubmed: 20222028
Am J Orthod Dentofacial Orthop. 2004 May;125(5):562-70
pubmed: 15127025
Lancet. 2007 Jul 14;370(9582):162-172
pubmed: 17630040
Am J Med Genet A. 2016 Nov;170(11):2882-2888
pubmed: 27605460
Chest. 2005 Mar;127(3):984-1005
pubmed: 15764786
J Int Med Res. 2003 May-Jun;31(3):236-8
pubmed: 12870378
Orphanet J Rare Dis. 2019 Nov 14;14(1):253
pubmed: 31727132
Am J Orthod Dentofacial Orthop. 1996 Aug;110(2):170-7
pubmed: 8760843
Nature. 1994 Sep 15;371(6494):252-4
pubmed: 8078586
Eur J Pediatr. 2011 Apr;170(4):453-9
pubmed: 20938683
Childs Nerv Syst. 2022 Jun;38(6):1147-1154
pubmed: 35277732
Saudi Dent J. 2010 Oct;22(4):195-9
pubmed: 24151409
Joint Bone Spine. 2008 Mar;75(2):125-30
pubmed: 17950653
Arch Dis Child. 1972 Feb;47(251):12-9
pubmed: 4259709
Birth Defects Orig Artic Ser. 1977;13(3C):101-7
pubmed: 890105
Pediatrics. 2020 Jun;145(6):
pubmed: 32457214
Healthcare (Basel). 2018 Jun 28;6(3):
pubmed: 29958395
Am J Med Genet A. 2017 May;173(5):1226-1230
pubmed: 28374958
Orphanet J Rare Dis. 2019 Jan 3;14(1):1
pubmed: 30606190
Mol Genet Genomic Med. 2014 Nov;2(6):497-503
pubmed: 25614871
Am J Med Genet. 1988 Nov;31(3):597-602
pubmed: 3228140
Am J Med Genet A. 2016 Jan;170A(1):42-51
pubmed: 26394886
J Pediatr Genet. 2017 Jun;6(2):122-125
pubmed: 28497003
Hum Mol Genet. 2016 Jul 15;25(14):2997-3010
pubmed: 27260401
Am J Med Genet A. 2020 Jan;182(1):146-149
pubmed: 31692255
Birth Defects Orig Artic Ser. 1974;10(12):274-95
pubmed: 4218770
Basic Life Sci. 1988;48:3-9
pubmed: 3071358
Cleft Palate Craniofac J. 2003 Jan;40(1):100-3
pubmed: 12498613
J Pediatr Surg. 1998 May;33(5):733-6
pubmed: 9607482
J Dev Behav Pediatr. 1997 Jun;18(3):143-50
pubmed: 9213228
Am J Med Genet. 1996 Mar 29;62(3):255-61
pubmed: 8882783
Tohoku J Exp Med. 2006 Feb;208(2):103-7
pubmed: 16434832
J Oral Maxillofac Pathol. 2013 Sep;17(3):451-4
pubmed: 24574672
Am J Med Genet A. 2021 Apr;185(4):1023-1032
pubmed: 33382213
Am J Hum Genet. 1995 Feb;56(2):368-73
pubmed: 7847369
Dev Med Child Neurol. 2012 Jun;54(6):532-7
pubmed: 22409389
Laryngoscope. 2016 Feb;126(2):478-84
pubmed: 26152504
Best Pract Res Clin Rheumatol. 2008 Mar;22(1):3-18
pubmed: 18328977
Hum Mol Genet. 2015 Jul 15;24(14):3918-28
pubmed: 25859006
J Dev Behav Pediatr. 2010 Jan;31(1):41-7
pubmed: 20081435
Am J Med Genet. 1983 Dec;16(4):459-73
pubmed: 6660245
Paediatr Respir Rev. 2018 Jun;27:48-59
pubmed: 29174374
J Indian Soc Periodontol. 2012 Jan;16(1):138-40
pubmed: 22628982
Orphanet J Rare Dis. 2021 Apr 7;16(1):156
pubmed: 33827611
Medicine (Baltimore). 1990 Jan;69(1):56-67
pubmed: 2299977
Am J Hum Genet. 1998 Sep;63(3):711-6
pubmed: 9718331
Nutrition. 1996 Jan;12(1):45-51
pubmed: 8838836
Am J Med Genet A. 2018 Aug;176(8):1723-1734
pubmed: 30070757
Pediatrics. 2005 Sep;116(3):771-83
pubmed: 16140722
Indian J Dent Res. 2020 Sep-Oct;31(5):794-798
pubmed: 33433522
Curr Osteoporos Rep. 2017 Apr;15(2):53-60
pubmed: 28224446
Am J Clin Nutr. 2008 Aug;88(2):364-71
pubmed: 18689372
J Orthop Traumatol. 2020 Mar 5;21(1):3
pubmed: 32140790
Arch Dis Child. 1991 Mar;66(3):277-9
pubmed: 2024998
J Clin Diagn Res. 2017 Jul;11(7):ZL03-ZL04
pubmed: 28893057
Orphanet J Rare Dis. 2022 Jul 27;17(1):293
pubmed: 35897040
JAMA Otolaryngol Head Neck Surg. 2019 Feb 1;145(2):146-151
pubmed: 30589926
Pediatr Radiol. 2012 Aug;42(8):906-15; quiz 1027-8
pubmed: 22426568

Auteurs

Elisabetta Sforza (E)

Università Cattolica del Sacro Cuore, 00168 Roma, Italy.

Gaia Margiotta (G)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

Valentina Giorgio (V)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

Domenico Limongelli (D)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

Francesco Proli (F)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

Eliza Maria Kuczynska (EM)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

Chiara Leoni (C)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

Cristina De Rose (C)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

Valentina Trevisan (V)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

Domenico Marco Romeo (DM)

Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.
Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.

Rosalinda Calandrelli (R)

Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

Eugenio De Corso (E)

Otorhinolaryngology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

Luca Massimi (L)

Pediatric Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.
Department of Neuroscience, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.

Osvaldo Palmacci (O)

Department of Orthopedics and Traumatology, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, 00168 Roma, Italy.

Donato Rigante (D)

Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

Giuseppe Zampino (G)

Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

Roberta Onesimo (R)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.

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