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Page 1
Differential diagnosis of syndromic craniosynostosis: a case series.
Casteleyn T, Horn D, Henrich W, Verlohren S. Casteleyn T, et al. Arch Gynecol Obstet. 2022 Jul;306(1):49-57. doi: 10.1007/s00404-021-06263-9. Epub 2021 Oct 11. Arch Gynecol Obstet. 2022. PMID: 34633507 Free PMC article.
The aim of this publication is to investigate sonographic signs of different syndromic craniosynostoses and associated malformations to facilitate a precise and early diagnosis. ...
The aim of this publication is to investigate sonographic signs of different syndromic craniosynostoses and associated malformations …
Syndromic Craniosynostosis: Unique Management Considerations.
Hersh DS, Hughes CD. Hersh DS, et al. Neurosurg Clin N Am. 2022 Jan;33(1):105-112. doi: 10.1016/j.nec.2021.09.008. Epub 2021 Oct 26. Neurosurg Clin N Am. 2022. PMID: 34801135 Review.
Craniosynostosis involves the premature fusion of 1 or more cranial sutures and commonly presents as an isolated, nonsyndromic diagnosis. ...A multidisciplinary craniofacial team with a central coordinator is particularly useful for coordinating care among various s …
Craniosynostosis involves the premature fusion of 1 or more cranial sutures and commonly presents as an isolated, nonsyndromic diagno …
Guideline on Treatment and Management of Craniosynostosis: Patient and Family Version.
Faasse M, Mathijssen IMJ; ERN CRANIO Working Group on Craniosynostosis. Faasse M, et al. J Craniofac Surg. 2023 Jan-Feb 01;34(1):418-433. doi: 10.1097/SCS.0000000000009143. Epub 2022 Dec 6. J Craniofac Surg. 2023. PMID: 36472893 Free PMC article.
The care and treatment of patients with craniosynostosis and the new developments were described for health care professionals involved in this in the guideline "Treatment and Management of Craniosynostosis", which was revised in 2020. ...Finally, the recommendation …
The care and treatment of patients with craniosynostosis and the new developments were described for health care professionals …
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
Kutkowska-Kaźmierczak A, Gos M, Obersztyn E. Kutkowska-Kaźmierczak A, et al. J Appl Genet. 2018 May;59(2):133-147. doi: 10.1007/s13353-017-0423-4. Epub 2018 Feb 1. J Appl Genet. 2018. PMID: 29392564 Review.
The etiology of craniosynostoses may involve genetic (also somatic mosaicism and regulatory mutations) and epigenetic factors, as well as environmental factors. ...The deletions of 9p22 or 11q23-qter (Jacobsen syndrome) are both associated with trigonocephaly. The g …
The etiology of craniosynostoses may involve genetic (also somatic mosaicism and regulatory mutations) and epigenetic factors, as wel …
Updated Guideline on Treatment and Management of Craniosynostosis.
Mathijssen IMJ; Working Group Guideline Craniosynostosis. Mathijssen IMJ, et al. J Craniofac Surg. 2021 Jan-Feb 01;32(1):371-450. doi: 10.1097/SCS.0000000000007035. J Craniofac Surg. 2021. PMID: 33156164 Free PMC article. No abstract available.
Sutures ultrasound: useful diagnostic screening for posterior plagiocephaly.
Marino S, Ruggieri M, Marino L, Falsaperla R. Marino S, et al. Childs Nerv Syst. 2021 Dec;37(12):3715-3720. doi: 10.1007/s00381-021-05324-3. Epub 2021 Aug 28. Childs Nerv Syst. 2021. PMID: 34453581 Free PMC article. Review.
None of these had associated other types of malformations and/or neurological disorders. The synostotic suture was identified ultrasonographically in 1 infant and subsequently confirmed by 3D CT scan (100%). CONCLUSION: Cranial sutures ultrasonography can be considered in …
None of these had associated other types of malformations and/or neurological disorders. The synostotic suture was identified ultrasonograph …
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Serbinski CR, Vanderwal A, Chadwell SE, Sanchez AI, Hopkin RJ, Hufnagel RB, Weaver KN, Prada CE. Serbinski CR, et al. Am J Med Genet A. 2024 Feb;194(2):195-202. doi: 10.1002/ajmg.a.63397. Epub 2023 Sep 29. Am J Med Genet A. 2024. PMID: 37774117
We present clinical and molecular characteristics of five individuals with RASopathy and craniosynostosis. Two were diagnosed with craniosynostosis prenatally, 1 was diagnosed as a neonate, and 2 had evidence of craniosynostosis noted as neonates without formal diagnosis u …
We present clinical and molecular characteristics of five individuals with RASopathy and craniosynostosis. Two were diagnosed with craniosyn …
Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.
Helfer TM, Peixoto AB, Tonni G, Araujo Júnior E. Helfer TM, et al. Med Ultrason. 2016 Sep;18(3):378-85. doi: 10.11152/mu.2013.2066.183.3du. Med Ultrason. 2016. PMID: 27622416 Free article. Review.
Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. ...
Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs i …
95 results