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Abnormality of fontanelles

MedGen UID:
866498
Concept ID:
C4020755
Anatomical Abnormality
Synonym: Anomaly of the fontanelles
 
HPO: HP:0011328

Definition

An abnormality of the fontanelle. [from HPO]

Professional guidelines

PubMed

Hersh DS, Bookland MJ, Hughes CD
Pediatr Clin North Am 2021 Aug;68(4):727-742. doi: 10.1016/j.pcl.2021.04.002. PMID: 34247705
Farrow E, Nicot R, Wiss A, Laborde A, Ferri J
J Craniofac Surg 2018 Mar;29(2):382-389. doi: 10.1097/SCS.0000000000004200. PMID: 29189406
Jaruga A, Hordyjewska E, Kandzierski G, Tylzanowski P
Clin Genet 2016 Nov;90(5):393-402. Epub 2016 Jun 30 doi: 10.1111/cge.12812. PMID: 27272193

Recent clinical studies

Etiology

Wang S, Wei H, Fu D, Liu X, Shen L, Wu S, Chen Y
Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Aug 25;50(4):494-499. doi: 10.3724/zdxbyxb-2021-0268. PMID: 34704418Free PMC Article
Dudink J, Jeanne Steggerda S, Horsch S; eurUS.brain group
Pediatr Res 2020 Mar;87(Suppl 1):3-12. doi: 10.1038/s41390-020-0776-y. PMID: 32218539Free PMC Article
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Steggerda SJ, van Wezel-Meijler G
Semin Fetal Neonatal Med 2016 Oct;21(5):295-304. Epub 2016 May 14 doi: 10.1016/j.siny.2016.04.011. PMID: 27189326
Rizvi R, Anjum Q
J Pak Med Assoc 2005 Nov;55(11):502-7. PMID: 16304873

Diagnosis

Hersh DS, Bookland MJ, Hughes CD
Pediatr Clin North Am 2021 Aug;68(4):727-742. doi: 10.1016/j.pcl.2021.04.002. PMID: 34247705
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Bellary SS, Steinberg A, Mirzayan N, Shirak M, Tubbs RS, Cohen-Gadol AA, Loukas M
Clin Anat 2013 Nov;26(8):922-7. Epub 2013 Aug 20 doi: 10.1002/ca.22262. PMID: 23959948
Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182Free PMC Article
Kiesler J, Ricer R
Am Fam Physician 2003 Jun 15;67(12):2547-52. PMID: 12825844

Therapy

Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Maciel LM, Kimura ET, Nogueira CR, Mazeto GM, Magalhães PK, Nascimento ML, Nesi-França S, Vieira SE; Brazilian Society of Endocrinology and Metabolism
Arq Bras Endocrinol Metabol 2013 Apr;57(3):184-92. doi: 10.1590/s0004-27302013000300004. PMID: 23681264
Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182Free PMC Article
Tung YR, Lai MC, Lui CC, Tsai KL, Huang LT, Chang YC, Huang SC, Yang SN, Hung PL
Pediatr Neurol 2002 Oct;27(4):262-6. doi: 10.1016/s0887-8994(02)00431-9. PMID: 12435563
Snavely SR, Hodges GR
Ann Intern Med 1984 Jul;101(1):92-104. doi: 10.7326/0003-4819-101-1-92. PMID: 6329054

Prognosis

Boskabadi H, Zakerihamidi M, Moradi A
J Matern Fetal Neonatal Med 2022 Jan;35(1):66-74. Epub 2020 Jan 14 doi: 10.1080/14767058.2020.1712698. PMID: 31937159
Steggerda SJ, van Wezel-Meijler G
Semin Fetal Neonatal Med 2016 Oct;21(5):295-304. Epub 2016 May 14 doi: 10.1016/j.siny.2016.04.011. PMID: 27189326
Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182Free PMC Article
Rizvi R, Anjum Q
J Pak Med Assoc 2005 Nov;55(11):502-7. PMID: 16304873
Tung YR, Lai MC, Lui CC, Tsai KL, Huang LT, Chang YC, Huang SC, Yang SN, Hung PL
Pediatr Neurol 2002 Oct;27(4):262-6. doi: 10.1016/s0887-8994(02)00431-9. PMID: 12435563

Clinical prediction guides

Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T
J Med Genet 2022 Sep;59(9):865-877. Epub 2021 Nov 23 doi: 10.1136/jmedgenet-2020-107623. PMID: 34815299Free PMC Article
Dudink J, Jeanne Steggerda S, Horsch S; eurUS.brain group
Pediatr Res 2020 Mar;87(Suppl 1):3-12. doi: 10.1038/s41390-020-0776-y. PMID: 32218539Free PMC Article
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
D'Antoni AV, Donaldson OI, Schmidt C, Macchi V, De Caro R, Oskouian RJ, Loukas M, Shane Tubbs R
Childs Nerv Syst 2017 Jun;33(6):909-914. Epub 2017 Apr 10 doi: 10.1007/s00381-017-3406-1. PMID: 28396968
Slavotinek A, Shaffer LG, Shapira SK
J Med Genet 1999 Sep;36(9):657-63. PMID: 10507720Free PMC Article

Recent systematic reviews

Gaddi MJS, Pascual JSG, Legaspi EDC, Rivera PP, Omar AT 2nd
J Stroke Cerebrovasc Dis 2020 Nov;29(11):105264. Epub 2020 Sep 3 doi: 10.1016/j.jstrokecerebrovasdis.2020.105264. PMID: 33066939
Curtis S, Stobart K, Vandermeer B, Simel DL, Klassen T
Pediatrics 2010 Nov;126(5):952-60. Epub 2010 Oct 25 doi: 10.1542/peds.2010-0277. PMID: 20974781

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