دورية أكاديمية
Does the Mutation Type Affect the Response to Cranial Vault Expansion in Children With Apert Syndrome?
العنوان: | Does the Mutation Type Affect the Response to Cranial Vault Expansion in Children With Apert Syndrome? |
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المؤلفون: | Goodarzi MR; Department of Plastic and Reconstructive Surgery, James Cook University Hospital, Middlesbrough, UK., Breakey WF; Department of Plastic and Reconstructive Surgery, James Cook University Hospital, Middlesbrough, UK.; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., van de Lande LS; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK.; Department of Oral and Maxillofacial Surgery, Erasmus Medical Center, Rotterdam, The Netherlands., Borghi A; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., O'Hara J; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., Ong J; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., James G; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., Hayward R; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., Schievano S; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., Dunaway DJ; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., Jeelani NO; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK. |
المصدر: | The Journal of craniofacial surgery [J Craniofac Surg] 2023 May 01; Vol. 34 (3), pp. 910-913. Date of Electronic Publication: 2022 Nov 18. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9010410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-3732 (Electronic) Linking ISSN: 10492275 NLM ISO Abbreviation: J Craniofac Surg |
أسماء مطبوعة: | Publication: <2014-> : Hagerstown, MD : Lippincott Williams & Wilkins Original Publication: Burlington, Ont. : B.C. Decker, c1990- |
مواضيع طبية MeSH: | Acrocephalosyndactylia*/genetics , Acrocephalosyndactylia*/surgery , Craniosynostoses*, Humans ; Child ; Skull/surgery ; Mutation ; Tomography, X-Ray Computed |
مستخلص: | Level of Evidence: III. Competing Interests: The authors report no conflicts of interest. (Copyright © 2022 by Mutaz B. Habal, MD.) |
التعليقات: | Comment in: J Craniofac Surg. 2023 May 1;34(3):913-915. (PMID: 36727961) |
References: | Apert E. De l’acrocephalosyndactalie. Bull Soc Med Hop Paris 1906;23:1310–1330. Cohen MM, Kreiborg S, Lammer EJ, et al. Birth prevalence study of the apert syndrome. Am J Med Genet 1992;42:655–659. Ibrahimi OA, Chui ES, McCarthy JG, et al. Understanding the molecular basis of Apert syndrome. Plastic Reconstr Surg 2005;115:264–270. Johnson D, Wilkie AOM. Craniosynostosis. Eur J Hum Genet 2011;19:369–376. Choi M, Flores RL, Havlik RJ. Volumetric analysis of anterior versus posterior cranial vault expansion in patients with syndromic craniosynostosis. J Craniofac Surg 2012;23:455–458. Sgouros S, Goldin J, Hockley A, et al. Posterior skull surgery in craniosynostosis. Childs Nerv Syst 1996;12:727–733. Breakey RWF, van de Lande LS, Sidpra J, et al. Spring-assisted posterior vault expansion—a single-centre experience of 200 cases. Childs Nerv Syst 2021;37:3189–3197. Muschelli J, Ullman NL, Mould WA, et al. Validated automatic brain extraction of head CT images. NeuroImage 2015;114:379–385. Breakey RWF, Knoops PGM, Borghi A, et al. Intracranial volume measurement: a systematic review and comparison of different techniques. J Craniofac Surg 2017;28:1746–1751. Breakey RWF, Knoops PGM, Borghi A, et al. Intracranial volume and head circumference in children with unoperated syndromic craniosynostosis. Plast Reconst Surg 2018;142:708e–717e. O’Hara J, Ruggiero F, Wilson L, et al. Syndromic craniosynostosis: complexities of clinical care. Mol Syndromol 2019;10:83–97. Forrest CR, Hopper RA. Craniofacial syndromes and surgery. Plast Reconst Surg 2013;131:86e–109e. Marucci DD, Dunaway DJ, Jones BM, et al. Raised intracranial pressure in Apert syndrome. Plast Reconst Surg 2008;122:1162–1168. Spruijt B, Rijken BF, Joosten KF, et al. Atypical presentation of a newborn with Apert syndrome. Childs Nerv Syst 2015;31:481–486. |
تواريخ الأحداث: | Date Created: 20230202 Date Completed: 20230505 Latest Revision: 20230505 |
رمز التحديث: | 20240628 |
DOI: | 10.1097/SCS.0000000000009126 |
PMID: | 36730527 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1536-3732 |
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DOI: | 10.1097/SCS.0000000000009126 |