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Abnormality of cranial sutures

MedGen UID:
868996
•Concept ID:
C4023412
•
Anatomical Abnormality
Synonyms: Abnormality of the bregma sutures; Abnormality of the calvarium sutures; Abnormality of the cranial sutures; Abnormality of the skull suture
 
HPO: HP:0011329

Definition

Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. [from HPO]

Professional guidelines

PubMed

The clinical manifestations, molecular mechanisms and treatment of craniosynostosis.
Stanton E, Urata M, Chen JF, Chai Y
Dis Model Mech 2022 Apr 1;15(4) Epub 2022 Apr 22 doi: 10.1242/dmm.049390. PMID: 35451466Free PMC Article
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
Craniosynostosis - Recognition, clinical characteristics, and treatment.
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article

Recent clinical studies

Etiology

Craniosynostosis and hypophosphatasia.
Di Rocco F, Baujat G, Cormier-Daire V, Rothenbuhler A, Linglart A
Arch Pediatr 2017 May;24(5S2):5S89-5S92. doi: 10.1016/S0929-693X(18)30022-8. PMID: 29405940
Positional Skull Deformities.
Linz C, Kunz F, Böhm H, Schweitzer T
Dtsch Arztebl Int 2017 Aug 7;114(31-32):535-542. doi: 10.3238/arztebl.2017.0535. PMID: 28835328Free PMC Article
Craniosynostosis.
Governale LS
Pediatr Neurol 2015 Nov;53(5):394-401. Epub 2015 Jul 22 doi: 10.1016/j.pediatrneurol.2015.07.006. PMID: 26371995
Craniosynostosis.
Johnson D, Wilkie AO
Eur J Hum Genet 2011 Apr;19(4):369-76. Epub 2011 Jan 19 doi: 10.1038/ejhg.2010.235. PMID: 21248745Free PMC Article
Genetics of craniosynostosis.
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA
Semin Pediatr Neurol 2007 Sep;14(3):150-61. doi: 10.1016/j.spen.2007.08.008. PMID: 17980312

Diagnosis

Craniosynostosis - Recognition, clinical characteristics, and treatment.
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article
Positional Skull Deformities.
Linz C, Kunz F, Böhm H, Schweitzer T
Dtsch Arztebl Int 2017 Aug 7;114(31-32):535-542. doi: 10.3238/arztebl.2017.0535. PMID: 28835328Free PMC Article
Craniosynostosis.
Governale LS
Pediatr Neurol 2015 Nov;53(5):394-401. Epub 2015 Jul 22 doi: 10.1016/j.pediatrneurol.2015.07.006. PMID: 26371995
Craniofacial anomalies.
Nagy L, Demke JC
Facial Plast Surg Clin North Am 2014 Nov;22(4):523-48. Epub 2014 Nov 8 doi: 10.1016/j.fsc.2014.08.002. PMID: 25444726
Craniofacial syndromes.
Buchanan EP, Xue AS, Hollier LH Jr
Plast Reconstr Surg 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. PMID: 25028828

Therapy

Craniosynostosis: A Reversible Pathology?
Säljö K, Maltese G, Tarnow P, Kölby L
J Craniofac Surg 2019 Sep;30(6):1628-1630. doi: 10.1097/SCS.0000000000005515. PMID: 31022145
Syndromic Craniosynostosis.
Sawh-Martinez R, Steinbacher DM
Clin Plast Surg 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. PMID: 30851747
Nonsyndromic Craniosynostosis.
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Evaluation of Endoscopic Strip Craniectomy and Orthotic Therapy for Bilateral Coronal Craniosynostosis.
Williams CT, Segar DJ, Naidoo SD, Skolnick GB, Proctor MR, Smyth MD, Patel KB
J Craniofac Surg 2019 Mar/Apr;30(2):453-457. doi: 10.1097/SCS.0000000000005118. PMID: 30640858Free 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

Prognosis

Squamosal Suture Synostosis: An Under-Recognized Phenomenon.
W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA
Cleft Palate Craniofac J 2023 Oct;60(10):1267-1272. Epub 2022 May 20 doi: 10.1177/10556656221100675. PMID: 35593077
Subarachnomegaly-venous congestion of infancy.
Sainz LV, Schuhmann MU
Childs Nerv Syst 2021 Nov;37(11):3455-3463. Epub 2021 Oct 23 doi: 10.1007/s00381-021-05328-z. PMID: 34687332Free PMC Article
Genetic bases of craniosynostoses: An update.
Armand T, Schaefer E, Di Rocco F, Edery P, Collet C, Rossi M
Neurochirurgie 2019 Nov;65(5):196-201. Epub 2019 Oct 9 doi: 10.1016/j.neuchi.2019.10.003. PMID: 31605683
Nonsyndromic Craniosynostosis.
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Complex craniosynostosis.
Czerwinski M, Kolar JC, Fearon JA
Plast Reconstr Surg 2011 Oct;128(4):955-961. doi: 10.1097/PRS.0b013e3182268ca6. PMID: 21681124

Clinical prediction guides

Molecular Mechanisms Involved in Craniosynostosis.
Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S
In Vivo 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. PMID: 36593018Free PMC Article
Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis.
Tiberio F, Parolini O, Lattanzi W
Genes (Basel) 2021 Jul 14;12(7) doi: 10.3390/genes12071073. PMID: 34356089Free PMC Article
Nonsyndromic Craniosynostosis.
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Determining the fate of cranial sutures after surgical correction of non-syndromic craniosynostosis.
Kim SY, Shin HJ, Lim SY
J Craniomaxillofac Surg 2017 Nov;45(11):1801-1808. Epub 2017 Aug 19 doi: 10.1016/j.jcms.2017.08.009. PMID: 28939204
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

Recent systematic reviews

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
Tooze RS, Calpena E, Weber A, Wilson LC, Twigg SRF, Wilkie AOM
Genes (Basel) 2023 Feb 28;14(3) doi: 10.3390/genes14030615. PMID: 36980886Free PMC Article
Management of Lambdoid Craniosynostosis: A Comprehensive and Systematic Review.
Reardon T, Fiani B, Kosarchuk J, Parisi A, Shlobin NA
Pediatr Neurosurg 2022;57(1):1-16. Epub 2021 Dec 3 doi: 10.1159/000519175. PMID: 34864743
Postnatal diagnosis of single-suture craniosynostosis with cranial ultrasound: a systematic review.
Whittall I, Lambert WA, Moote DJ, Bookland MJ, Martin JE, Hughes CD, Hersh DS
Childs Nerv Syst 2021 Dec;37(12):3705-3714. Epub 2021 Oct 5 doi: 10.1007/s00381-021-05301-w. PMID: 34611761
The State of Technology in Craniosynostosis.
Safran T, Viezel-Mathieu A, Beland B, Azzi AJ, Galli R, Gilardino M
J Craniofac Surg 2018 Jun;29(4):904-907. doi: 10.1097/SCS.0000000000004399. PMID: 29498975
Determining the fate of cranial sutures after surgical correction of non-syndromic craniosynostosis.
Kim SY, Shin HJ, Lim SY
J Craniomaxillofac Surg 2017 Nov;45(11):1801-1808. Epub 2017 Aug 19 doi: 10.1016/j.jcms.2017.08.009. PMID: 28939204

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