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Abnormal fontanelle morphology

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

Definition

An abnormality of the fontanelle. [from HPO]

Professional guidelines

PubMed

Diagnosis and Management of Suture-Related Concerns of the Infant Skull.
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
Hindbrain morphometry and choroid plexus position in differential diagnosis of posterior fossa cystic malformations.
Paladini D, Donarini G, Parodi S, Volpe G, Sglavo G, Fulcheri E
Ultrasound Obstet Gynecol 2019 Aug;54(2):207-214. doi: 10.1002/uog.20120. PMID: 30207001
A new view of the neonatal brain: clinical utility of supplemental neurologic US imaging windows.
Di Salvo DN
Radiographics 2001 Jul-Aug;21(4):943-55. doi: 10.1148/radiographics.21.4.g01jl14943. PMID: 11452069

Recent clinical studies

Etiology

Prenatal detection of right aortic arch.
Yerlikaya G, Efetürk T, Springer S, Reischer T
Arch Gynecol Obstet 2019 Apr;299(4):933-938. Epub 2019 Jan 31 doi: 10.1007/s00404-019-05056-5. PMID: 30706183Free PMC Article
Pycnodysostosis at otorhinolaryngology.
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
Three-dimensional ultrasound imaging of the fetal skull and face.
Tutschek B, Blaas HK, Abramowicz J, Baba K, Deng J, Lee W, Merz E, Platt L, Pretorius D, Timor-Tritsch IE, Gindes L; ISUOG 3D Special Interest Group
Ultrasound Obstet Gynecol 2017 Jul;50(1):7-16. doi: 10.1002/uog.17436. PMID: 28229509
Distal Xq duplication and functional Xq disomy.
Sanlaville D, Schluth-Bolard C, Turleau C
Orphanet J Rare Dis 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. PMID: 19232094Free PMC Article
Mastoid fontanelle approach for sonographic imaging of the neonatal brain.
Enriquez G, Correa F, Aso C, Carreño JC, Gonzalez R, Padilla NF, Vazquez E
Pediatr Radiol 2006 Jun;36(6):532-40. Epub 2006 Apr 7 doi: 10.1007/s00247-006-0144-z. PMID: 16601977

Diagnosis

Diagnosis and Management of Suture-Related Concerns of the Infant Skull.
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
Pycnodysostosis at otorhinolaryngology.
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
Wormian bones: a review.
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
Congenital hypothyroidism.
Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182Free PMC Article
The abnormal fontanel.
Kiesler J, Ricer R
Am Fam Physician 2003 Jun 15;67(12):2547-52. PMID: 12825844

Therapy

Pycnodysostosis at otorhinolaryngology.
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
Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature.
Pastrana-Ayala R, Peña-Castro GL, Valencia-Herrera AM, Mena-Cedillos CA, Toussaint-Caire S, Akaki-Carreño YI, García-Delgado C, Morán-Barroso VF, Toledo-Bahena M
Int J Dermatol 2017 Apr;56(4):435-439. Epub 2017 Feb 19 doi: 10.1111/ijd.13504. PMID: 28217872
Congenital hypothyroidism.
Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182Free PMC Article
Cerebral palsy in very preterm infants: new epidemiological insights.
O'Shea TM
Ment Retard Dev Disabil Res Rev 2002;8(3):135-45. doi: 10.1002/mrdd.10032. PMID: 12216057
Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy.
Soliman AT, Ramadan MA, Sherif A, Aziz Bedair ES, Rizk MM
Metabolism 2001 Aug;50(8):905-11. doi: 10.1053/meta.2001.24924. PMID: 11474477

Prognosis

Predictors of the need for cerebrospinal fluid diversion in patients with myelomeningocele.
Phillips BC, Gelsomino M, Pownall AL, Ocal E, Spencer HJ, O'Brien MS, Albert GW
J Neurosurg Pediatr 2014 Aug;14(2):167-72. Epub 2014 May 30 doi: 10.3171/2014.4.PEDS13470. PMID: 24877604
Congenital hypothyroidism.
Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182Free PMC Article
Restrictive dermopathy: report and review.
Mau U, Kendziorra H, Kaiser P, Enders H
Am J Med Genet 1997 Aug 8;71(2):179-85. doi: 10.1002/(sici)1096-8628(19970808)71:2<179::aid-ajmg11>3.0.co;2-b. PMID: 9217218
Radiographic manifestations of congenital anomalies of the skull.
Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047
To shunt or not to shunt: hydrocephalus and dysraphism.
Rekate HL
Clin Neurosurg 1985;32:593-607. PMID: 2415285

Clinical prediction guides

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
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
Pycnodysostosis at otorhinolaryngology.
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
A comprehensive review of the anterior fontanelle: embryology, anatomy, and clinical considerations.
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
Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy.
Soliman AT, Ramadan MA, Sherif A, Aziz Bedair ES, Rizk MM
Metabolism 2001 Aug;50(8):905-11. doi: 10.1053/meta.2001.24924. PMID: 11474477
The Baller-Gerold syndrome.
Van Maldergem L, Verloes A, Lejeune L, Gillerot Y
J Med Genet 1992 Apr;29(4):266-8. doi: 10.1136/jmg.29.4.266. PMID: 1583650Free PMC Article

Recent systematic reviews

Giant Cerebellar Cavernomas in Pediatric Patients: Systematic Review with Illustrative Case.
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

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