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3D-Printing in Neurosurgical Training: Hands-On Practice, Patient-Specific Planning and Simulation.
Coelho G, Freeman WD. Coelho G, et al. Adv Tech Stand Neurosurg. 2026;56:357-376. doi: 10.1007/978-3-032-22008-0_16. Adv Tech Stand Neurosurg. 2026. PMID: 42393455 Review.
Through illustrative case reports-including frontoethmoidal and transsphenoidal meningoencephaloceles, metopic craniosynostosis, and late encephalocele correction-the chapter demonstrates how multimaterial 3D-printing, hybrid silicone-resin constructs, and integration with …
Through illustrative case reports-including frontoethmoidal and transsphenoidal meningoencephaloceles, metopic craniosynostosis, and …
Development and nested cross-validation of machine learning models for predicting transfusion requirements in pediatric craniosynostosis surgery.
Deng J, Gharavi A, Heybati K, Haile D, Ahn ES, Mardini S, Gibreel W. Deng J, et al. J Plast Reconstr Aesthet Surg. 2026 Jul;118:209-220. doi: 10.1016/j.bjps.2026.05.033. Epub 2026 May 14. J Plast Reconstr Aesthet Surg. 2026. PMID: 42214978
Blood transfusion is common during pediatric craniosynostosis surgery; however, transfusion volumes and use of cell salvage systems can vary considerably. To support preoperative transfusion planning in patients undergoing craniectomy for craniosynostosis, we develo …
Blood transfusion is common during pediatric craniosynostosis surgery; however, transfusion volumes and use of cell salvage systems c …
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.
Edoh E, Mighton C, Broeren E, Gitau V, Ratliff J, DiStefano M, Gadalla S, Girod A, Hughes M, McCurry H, Patel M, Wilcox EH, Mohammadi M, Paschal C, Spector E, Wilkie AOM, Zackai E, Zarate YA, Graham JM Jr, Jabs EW, Sanchez-Lara PA; ClinGen Craniofacial Malformations Gene Curation Expert Panel. Edoh E, et al. Genet Med. 2026 Apr 29:102587. doi: 10.1016/j.gim.2026.102587. Online ahead of print. Genet Med. 2026. PMID: 42059179 Free PMC article.
PURPOSE: The ClinGen Craniofacial Malformations Gene Curation Expert Panel (Cranio GCEP) was formed in 2020 with an initial target of evaluating genes implicated in craniosynostosis and skull abnormalities. This work summarizes the findings of the Cranio GCEP during its fi …
PURPOSE: The ClinGen Craniofacial Malformations Gene Curation Expert Panel (Cranio GCEP) was formed in 2020 with an initial target of evalua …
Postoperative TXA Infusion in Treatment of Craniosynostosis With Suturectomy: To Continue or Not to Continue?
Kurnik N, Grove A, Kirsch H, Singh DJ. Kurnik N, et al. J Craniofac Surg. 2026 Apr 2. doi: 10.1097/SCS.0000000000012560. Online ahead of print. J Craniofac Surg. 2026. PMID: 41925204
BACKGROUND: Tranexamic acid (TXA) is widely used in craniosynostosis surgery to reduce blood loss. Although the efficacy of TXA administration has been documented in the literature, dosing in the perioperative setting is variable and without a standard protocol. ...CONCLUS …
BACKGROUND: Tranexamic acid (TXA) is widely used in craniosynostosis surgery to reduce blood loss. Although the efficacy of TXA admin …
Towards Automated Craniosynostosis Diagnosis Using EfficientNet-Based Artificial Intelligence Models: A Two-Class and Multi-Class Approach.
Keishing V, Ahn ES, Khashim Z, Loudermilk AD, Erickson BJ. Keishing V, et al. J Imaging Inform Med. 2025 Dec 2. doi: 10.1007/s10278-025-01694-1. Online ahead of print. J Imaging Inform Med. 2025. PMID: 41530419
Craniosynostosis is a congenital condition characterized by premature fusion of a newborn's cranial bones, impeding brain growth and causing disfiguration. ...To our knowledge, this is the first study to achieve high-accuracy binary and multi-class craniosynostosis …
Craniosynostosis is a congenital condition characterized by premature fusion of a newborn's cranial bones, impeding brain growth and …
Secondary Synostosis After Spring-Mediated Cranioplasty for Sagittal Synostosis.
Shrout M, Watmore TD, Jukic A, Singh DJ. Shrout M, et al. Cleft Palate Craniofac J. 2025 Dec 8:10556656251405356. doi: 10.1177/10556656251405356. Online ahead of print. Cleft Palate Craniofac J. 2025. PMID: 41358874
ObjectiveTo evaluate the incidence and characteristics of secondary synostosis following spring-mediated cranioplasty (SMC) for nonsyndromic sagittal craniosynostosis.DesignRetrospective cohort study.SettingSingle tertiary pediatric hospital.Patients/ParticipantsTen patien …
ObjectiveTo evaluate the incidence and characteristics of secondary synostosis following spring-mediated cranioplasty (SMC) for nonsyndromic …
Concurrent Chiari malformation type I and hydrocephalus: Integrating mechanistic and pathophysiological insights toward a unified management paradigm.
Davalan W, Mehta NH, Jackson EM, Rocque BG, Duy PQ, Muñoz W, Kundishora AJ, Mekbib KY, Limbrick DD Jr, Kahle KT. Davalan W, et al. Exp Neurol. 2026 Feb;396:115535. doi: 10.1016/j.expneurol.2025.115535. Epub 2025 Oct 29. Exp Neurol. 2026. PMID: 41173227 Review.
Such mechanisms often converge in complex developmental disorders, most notably syndromic craniosynostoses where premature suture fusion restricts posterior fossa expansion and perturbs venous and CSF dynamics, driving hindbrain herniation and ventriculomegaly. ...
Such mechanisms often converge in complex developmental disorders, most notably syndromic craniosynostoses where premature suture fus …
Time Course of a Single, 0.6 mg/kg Dose of Rocuronium Neuromuscular Block During Sevoflurane or Propofol Anesthesia in Infants-A Prospective, Randomized Trial.
Fülesdi B, Luterán P, Boktor M, Asztalos L, Nagy G, Brull SJ, Molnár C. Fülesdi B, et al. J Clin Med. 2025 Sep 13;14(18):6459. doi: 10.3390/jcm14186459. J Clin Med. 2025. PMID: 41010662 Free PMC article.
Methods: The prospective study enrolled 20 infants (4-12 months of age) scheduled for craniosynostosis surgery, randomly assigned to receive general anesthesia maintenance with sevoflurane or propofol. ...
Methods: The prospective study enrolled 20 infants (4-12 months of age) scheduled for craniosynostosis surgery, randomly assigned to …
Sociodemographic Factors Associated with Late Presentation in Nonsyndromic Sagittal Synostosis.
Watmore TD, Jukic A, Solomon SS, Kenner HA, Temkit M, Singh DJ. Watmore TD, et al. Cleft Palate Craniofac J. 2026 Jul;63(7):2094-2104. doi: 10.1177/10556656251369659. Epub 2025 Aug 18. Cleft Palate Craniofac J. 2026. PMID: 40827059
Objective: Our objective is to examine which sociodemographic factors may influence the time of presentation of patients with craniosynostosis, which can impact perioperative outcomes. Design: Retrospective cohort study. ...Interventions: Comparing demographic variables be …
Objective: Our objective is to examine which sociodemographic factors may influence the time of presentation of patients with craniosynos …
ESCO2 Spectrum Disorder.
Vega H, Gordillo M, Jabs EW. Vega H, et al. 2006 Apr 18 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2006 Apr 18 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301332 Free Books & Documents. Review.
MANAGEMENT: Treatment of manifestations: Individualized treatment to improve quality of life; feeding and nutrition support; management of limb malformations through a multidisciplinary neuromuscular clinic including orthopedics, physical medicine, and physical and occupational t …
MANAGEMENT: Treatment of manifestations: Individualized treatment to improve quality of life; feeding and nutrition support; management of l …
A Quarterly Multidisciplinary Craniofacial Operative Team Conference to Improve Surgical Outcomes and Adherence to Clinical Pathways: Does it Work?
Grove AM, Kirsch HM, Hanley SP, Bristol RE, Kurnik NM, Sitzman TJ, Singh DJ. Grove AM, et al. J Craniofac Surg. 2025 May 5. doi: 10.1097/SCS.0000000000011468. Online ahead of print. J Craniofac Surg. 2025. PMID: 40323582
The authors report results from a retrospective review of craniosynostosis suturectomy operations at a single site in the 2 years before and 2 years after the start of our team meeting to review perioperative care. ...
The authors report results from a retrospective review of craniosynostosis suturectomy operations at a single site in the 2 years bef …
Virtual Surgical Planning in Craniofacial Surgery: The Top 50 Most Frequently Cited Papers.
Wang L, Kreutz-Rodrigues L, Gibreel W. Wang L, et al. Plast Surg (Oakv). 2024 Dec 19;34(1):121-129. doi: 10.1177/22925503241305638. eCollection 2026 Feb. Plast Surg (Oakv). 2024. PMID: 39713526 Free PMC article.
The majority of articles (37 of 50) were on orthognathic surgery, 11 facial reconstruction, 2 calvarium reconstruction or craniosynostosis, and 2 free flap procedures. Year of publication ranged from 2000 to 2019; 34 articles were published in craniomaxillofacial journals. …
The majority of articles (37 of 50) were on orthognathic surgery, 11 facial reconstruction, 2 calvarium reconstruction or craniosynostosi …
Associations Between Maternal Periconceptional Alcohol Consumption and Risk of Craniosynostosis Among Offspring, National Birth Defects Prevention Study, 1997-2011.
Fisher SC, Romitti PA, Tracy M, Howley MM, Jabs EW, Browne ML; National Birth Defects Prevention Study. Fisher SC, et al. Birth Defects Res. 2024 Dec;116(12):e2420. doi: 10.1002/bdr2.2420. Birth Defects Res. 2024. PMID: 39665132 Free PMC article.
BACKGROUND: Previous studies of maternal alcohol consumption and craniosynostosis have reported null or inverse associations. We updated a previous analysis of National Birth Defects Prevention Study (NBDPS) data to further examine associations between maternal alcohol con …
BACKGROUND: Previous studies of maternal alcohol consumption and craniosynostosis have reported null or inverse associations. We upda …
Incidence of Nonsynostotic Plagiocephaly and Developmental Disorders.
Lynch ME, White MJ, Rabatin AE, Brandenburg JE, Theuer AB, Viet KM, Hollman JH, Driscoll SW. Lynch ME, et al. JAMA Pediatr. 2024 Sep 1;178(9):899-905. doi: 10.1001/jamapediatrics.2024.2304. JAMA Pediatr. 2024. PMID: 39037805 Free PMC article.
OBJECTIVE: To report the incidence of PPB before age 1 year, the incidence of craniosynostosis, and the percentage of children with PPB diagnosed with a developmental disorder by age 7 years. ...Secondary outcomes were the incidence of craniosynostosis and the perce …
OBJECTIVE: To report the incidence of PPB before age 1 year, the incidence of craniosynostosis, and the percentage of children with P …
MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes.
Wang H, Wierenga A, Prabhu S, Wierenga K. Wang H, et al. 2023 Nov 30. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2023 Nov 30. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 38048414 Free Books & Documents. Review.
Additional features can include waddling or staggering gait, craniosynostosis, mild intellectual disability, and seizures. Imaging findings include diffuse osteopenia, copper-beaten appearance of the skull, dysplasia of multiple thoracolumbar vertebrae, long bones with sma …
Additional features can include waddling or staggering gait, craniosynostosis, mild intellectual disability, and seizures. Imaging fi …
Tandem pediatric neurosurgery: treatment of synostosis and intractable epilepsy. Illustrative case.
Ariwodo O, Nordli DR, Ranalli NJ, Beier AD. Ariwodo O, et al. J Neurosurg Case Lessons. 2023 Nov 13;6(20):CASE23379. doi: 10.3171/CASE23379. Print 2023 Nov 13. J Neurosurg Case Lessons. 2023. PMID: 37956426 Free PMC article.
BACKGROUND: Hemispherectomy is a surgical procedure reserved for hemispheric intractable epilepsy. Sagittal craniosynostosis is a congenital disorder treated with open or endoscope-assisted approaches for synostosis correction. ...OBSERVATIONS: In this report, the authors …
BACKGROUND: Hemispherectomy is a surgical procedure reserved for hemispheric intractable epilepsy. Sagittal craniosynostosis is a con …
Incorporation of a biparietal narrowing metric to improve the ability of machine learning models to detect sagittal craniosynostosis with 2D photographs.
Anderson MG, Jungbauer D, Leclair NK, Ahn ES, Stoltz P, Martin JE, Hersh DS, Bookland MJ. Anderson MG, et al. Neurosurg Focus. 2023 Jun;54(6):E9. doi: 10.3171/2023.3.FOCUS2349. Neurosurg Focus. 2023. PMID: 37283444
OBJECTIVE: Sagittal craniosynostosis is the most common form of craniosynostosis and typically results in scaphocephaly, which is characterized by biparietal narrowing, compensatory frontal bossing, and an occipital prominence. ...In 6 of 122 (4.9%) cases of sagitta …
OBJECTIVE: Sagittal craniosynostosis is the most common form of craniosynostosis and typically results in scaphocephaly, which …
Clinical metrics and tools for provider assessment and tracking of trigonocephaly.
Leclair NK, Chern J, Ahn ES, Chamis M, Paro MR, Lambert WA, Stoltz P, Hersh DS, Martin JE, Bookland MJ. Leclair NK, et al. J Neurosurg Pediatr. 2023 Apr 7;32(1):82-90. doi: 10.3171/2023.2.PEDS22511. Print 2023 Jul 1. J Neurosurg Pediatr. 2023. PMID: 37029682
OBJECTIVE: Quantitative measurements of trigonocephaly can be used to characterize and track this phenotype, which is associated with metopic craniosynostosis. Traditionally, trigonocephaly metrics were extracted from CT scans; however, this method exposes patients to ioni …
OBJECTIVE: Quantitative measurements of trigonocephaly can be used to characterize and track this phenotype, which is associated with metopi …
Childhood Neurologic Conditions: Neuroanatomic Abnormalities.
Fine A, Schupack KM. Fine A, et al. FP Essent. 2022 Dec;523:27-42. FP Essent. 2022. PMID: 36459666
This should be differentiated from craniosynostosis, which is the premature fusion of one or more skull sutures. For patients with craniosynostosis, early referral to a pediatric neurosurgeon or craniofacial specialist is important to prevent continued skull deformi …
This should be differentiated from craniosynostosis, which is the premature fusion of one or more skull sutures. For patients with …
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.
Hirsch N, Dahan I, D'haene E, Avni M, Vergult S, Vidal-García M, Magini P, Graziano C, Severi G, Bonora E, Nardone AM, Brancati F, Fernández-Jaén A, Rory OJ, Hallgrímsson B, Birnbaum RY. Hirsch N, et al. Genome Res. 2022 Jul;32(7):1242-1253. doi: 10.1101/gr.276196.121. Epub 2022 Jun 16. Genome Res. 2022. PMID: 35710300 Free PMC article.
However, SVs disrupting protein-coding sequences that also function as cis-regulatory elements remain largely uncharacterized. Here, we show that craniosynostosis patients with SVs containing the histone deacetylase 9 (HDAC9) protein-coding sequence are associated with dis …
However, SVs disrupting protein-coding sequences that also function as cis-regulatory elements remain largely uncharacterized. Here, we show …
Influence of Nonsyndromic Bicoronal Synostosis and Syndromic Influences on Orbit and Periorbital Malformation.
Lu X, Forte AJ, Dinis J, Junn A, Alperovich M, Alonso N, Persing JA. Lu X, et al. Plast Reconstr Surg. 2022 May 1;149(5):930e-942e. doi: 10.1097/PRS.0000000000009051. Epub 2022 Mar 14. Plast Reconstr Surg. 2022. PMID: 35286288
BACKGROUND: Oculoorbital disproportion in patients with craniosynostosis has similarities and dissimilarities between syndromic and nonsyndromic cases. ...CONCLUSIONS: Orbit and periorbital malformation in syndromic craniosynostosis is likely the combined influence …
BACKGROUND: Oculoorbital disproportion in patients with craniosynostosis has similarities and dissimilarities between syndromic and n …
Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
Muthusamy K, El-Jabali A, Ongie LJ, Dhamija R, Babovic-Vuksanovic D. Muthusamy K, et al. Am J Med Genet A. 2022 Mar;188(3):911-918. doi: 10.1002/ajmg.a.62575. Epub 2021 Nov 19. Am J Med Genet A. 2022. PMID: 34797032
Examples include Prader-Willi Syndrome, Autosomal Dominant Polycystic Kidney Disease, Down syndrome, infantile myofibromatosis, Craniosynostosis, cleft lip and palate, 47,XYY, 22q11.2 duplication, 15q13.3 deletion syndrome, and BRCA2- and ATM- related cancer predisposition …
Examples include Prader-Willi Syndrome, Autosomal Dominant Polycystic Kidney Disease, Down syndrome, infantile myofibromatosis, Craniosyn …
Facial Dysmorphology in Saethre-Chotzen Syndrome.
Junn A, Dinis J, Lu X, Forte AJ, Mozaffari MA, Phillips S, Lopez J, Alonso N, Persing JA, Alperovich M. Junn A, et al. J Craniofac Surg. 2021 Nov-Dec 01;32(8):2660-2665. doi: 10.1097/SCS.0000000000007910. J Craniofac Surg. 2021. PMID: 34727468
METHODS: Preoperative computer tomography scans of 15 SCS patients, 23 normal controls, 13 bicoronal nonsyndromic, and 7 unicoronal nonsyndromic craniosynostosis patients were included for analysis. Unaffected controls and nonsyndromic patients were age- and sex-matched to …
METHODS: Preoperative computer tomography scans of 15 SCS patients, 23 normal controls, 13 bicoronal nonsyndromic, and 7 unicoronal nonsyndr …
Nasopharyngeal airway and subcranial space analysis in Pfeiffer syndrome.
Lu X, Forte AJ, Allam O, Park KE, Junn A, Alperovich M, Steinbacher DM, Tonello C, Alonso N, Persing JA. Lu X, et al. Br J Oral Maxillofac Surg. 2021 Jun;59(5):592-598. doi: 10.1016/j.bjoms.2020.10.008. Epub 2020 Dec 15. Br J Oral Maxillofac Surg. 2021. PMID: 33863588
Single incision endoscopic strip craniectomy for sagittal craniosynostosis.
Ahn ES, Bhandarkar AR. Ahn ES, et al. Neurosurg Focus Video. 2021 Apr 1;4(2):V10. doi: 10.3171/2021.1.FOCVID20120. eCollection 2021 Apr. Neurosurg Focus Video. 2021. PMID: 36284855 Free PMC article.
The authors describe an endoscopic strip craniectomy through a single incision for the treatment of sagittal craniosynostosis in a young infant. The endoscopic strip craniectomy was first introduced with the use of two incisions on either end of the fused suture. ...
The authors describe an endoscopic strip craniectomy through a single incision for the treatment of sagittal craniosynostosis in a yo …
Image processing and machine learning for telehealth craniosynostosis screening in newborns.
Bookland MJ, Ahn ES, Stoltz P, Martin JE. Bookland MJ, et al. J Neurosurg Pediatr. 2021 Mar 19;27(5):581-588. doi: 10.3171/2020.9.PEDS20605. Print 2021 May 1. J Neurosurg Pediatr. 2021. PMID: 33740758
OBJECTIVE: The authors sought to evaluate the accuracy of a novel telehealth-compatible diagnostic software system for identifying craniosynostosis within a newborn (< 1 year old) population. Agreement with gold standard craniometric diagnostics was also assessed. ...CO …
OBJECTIVE: The authors sought to evaluate the accuracy of a novel telehealth-compatible diagnostic software system for identifying cranio …
Cephalocranial Disproportionate Fossa Volume and Normal Skull Base Angle in Pfeiffer Syndrome.
Lu X, Forte AJ, Allam O, Park KE, Alperovich M, Steinbacher DM, Tonello C, Alonso N, Persing JA. Lu X, et al. J Craniofac Surg. 2021 Mar-Apr 01;32(2):581-586. doi: 10.1097/SCS.0000000000007203. J Craniofac Surg. 2021. PMID: 33704985
BACKGROUND: Pfeiffer syndrome is a rare syndromic craniosynostosis disorder, with a wide range of clinical manifestations. This study aims to investigate the structural abnormalities of cranial fossa and skull base development in Pfeiffer patients, to provide an anatomic b …
BACKGROUND: Pfeiffer syndrome is a rare syndromic craniosynostosis disorder, with a wide range of clinical manifestations. This study …
Growth patterns of the airway in Crouzon syndrome patients with different types of cranial vault suture synostosis.
Lu X, Forte AJ, Wilson A, Park KE, Allam O, Alperovich M, Steinbacher DM, Tonello C, Alonso N, Persing JA. Lu X, et al. Int J Oral Maxillofac Surg. 2021 Jul;50(7):924-932. doi: 10.1016/j.ijom.2020.11.023. Epub 2020 Dec 29. Int J Oral Maxillofac Surg. 2021. PMID: 33384236
Airway compromise in Crouzon syndrome is variable when associated with different craniosynostosis fusion patterns. Type II (sagittal synostosis) Crouzon patients grew a normal nasopharyngeal airway volume. ...
Airway compromise in Crouzon syndrome is variable when associated with different craniosynostosis fusion patterns. Type II (sagittal …
Genetic background dependent modifiers of craniosynostosis severity.
Dudakovic A, Nam HK, Wijnen AJV, Hatch NE. Dudakovic A, et al. J Struct Biol. 2020 Dec 1;212(3):107629. doi: 10.1016/j.jsb.2020.107629. Epub 2020 Sep 23. J Struct Biol. 2020. PMID: 32976998 Free PMC article.
To begin identifying pre-existing modifiers of craniosynostosis severity, we compared transcriptome signatures of cranial tissues from C57BL/6 vs. ...Therefore, we propose that differences in protein quality control responses may contribute to genetic background influences …
To begin identifying pre-existing modifiers of craniosynostosis severity, we compared transcriptome signatures of cranial tissues fro …
What Is the Difference in Cranial Base Morphology in Isolated and Syndromic Bicoronal Synostosis?
Lu X, Forte AJ, Wilson AT, Park KE, Allam O, Mozaffari MA, Alperovich M, Steinbacher DM, Alonso N, Persing JA. Lu X, et al. Plast Reconstr Surg. 2020 Sep;146(3):599-610. doi: 10.1097/PRS.0000000000007068. Plast Reconstr Surg. 2020. PMID: 32842109
BACKGROUND: The association of isolated craniosynostosis and the influence of syndromic forms confound the understanding of craniofacial morphologic development. ...
BACKGROUND: The association of isolated craniosynostosis and the influence of syndromic forms confound the understanding of craniofac …
Racial disparity of Crouzon syndrome in maxilla and mandible.
Lu X, Forte AJ, Fan F, Zhang Z, Teng L, Yang B, Alperovich M, Steinbacher DM, Alonso N, Persing JA. Lu X, et al. Int J Oral Maxillofac Surg. 2020 Dec;49(12):1566-1575. doi: 10.1016/j.ijom.2020.04.005. Epub 2020 Apr 30. Int J Oral Maxillofac Surg. 2020. PMID: 32362538
The racial disparity of facial features in craniosynostosis patients is not fully understood. The aim of this study was to explore the difference in maxillary and mandibular morphology and spatial position in Asian and Caucasian Crouzon syndrome patients. ...
The racial disparity of facial features in craniosynostosis patients is not fully understood. The aim of this study was to explore th …
Reply: Airway Analysis in Apert Syndrome.
Lu X, Forte AJ, Persing JA. Lu X, et al. Plast Reconstr Surg. 2020 Mar;145(3):661e-662e. doi: 10.1097/PRS.0000000000006596. Plast Reconstr Surg. 2020. PMID: 32097354 No abstract available.
Classification of Subtypes of Crouzon Syndrome Based on the Type of Vault Suture Synostosis.
Lu X, Sawh-Martinez R, Forte AJ, Wu R, Cabrejo R, Wilson A, Steinbacher DM, Alperovich M, Alonso N, Persing JA. Lu X, et al. J Craniofac Surg. 2020 May/Jun;31(3):678-684. doi: 10.1097/SCS.0000000000006173. J Craniofac Surg. 2020. PMID: 32068731
BACKGROUND: Patients with Crouzon syndrome develop various types of anatomic deformities due to different forms of craniosynostosis, yet they have similar craniofacial characteristics. However, exact homology is not evident. ...The classification of Crouzon syndrome propos …
BACKGROUND: Patients with Crouzon syndrome develop various types of anatomic deformities due to different forms of craniosynostosis, …
Cranial Fossa Development in Differing Subtypes of Crouzon Syndrome.
Lu X, Forte AJ, Steinbacher DM, Alperovich M, Alonso N, Persing JA. Lu X, et al. J Craniofac Surg. 2020 May/Jun;31(3):673-677. doi: 10.1097/SCS.0000000000006181. J Craniofac Surg. 2020. PMID: 32049910
CONCLUSIONS: Pansynostosis is the most often form of associated craniosynostoses of Crouzon syndrome, however bilateral coronal synostosis may not dominate this form of Crouzon syndrome. ...
CONCLUSIONS: Pansynostosis is the most often form of associated craniosynostoses of Crouzon syndrome, however bilateral coronal synos …
Airway Analysis in Apert Syndrome.
Forte AJ, Lu X, Hashim PW, Steinbacher DM, Alperovich M, Persing JA, Alonso N. Forte AJ, et al. Plast Reconstr Surg. 2019 Sep;144(3):704-709. doi: 10.1097/PRS.0000000000005937. Plast Reconstr Surg. 2019. PMID: 31461034
Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis.
Lu X, Sawh-Martinez R, Jorge Forte A, Wu R, Cabrejo R, Wilson A, Steinbacher DM, Alperovich M, Alonso N, Persing JA. Lu X, et al. Plast Reconstr Surg Glob Open. 2019 Mar 20;7(3):e2158. doi: 10.1097/GOX.0000000000002158. eCollection 2019 Mar. Plast Reconstr Surg Glob Open. 2019. PMID: 31044122 Free PMC article.
Therefore, a classification system of Apert syndrome based on the type of craniosynostosis pattern might be helpful in determining treatment choices. METHODS: CT scans of 31 unoperated Apert syndrome and 51 controls were included and subgrouped as: class I. ...
Therefore, a classification system of Apert syndrome based on the type of craniosynostosis pattern might be helpful in determining tr …
What Is the Skull Structure Influence of Squamosal Suture Synostosis in Nonsyndromic and Syndromic Crouzon Craniosynostosis?
Lu X, Chen G, Forte AJ, Cabrejo R, Singh A, Kyle G, Steinbacher DM, Alperovich M, Alonso N, Persing JA. Lu X, et al. J Craniofac Surg. 2019 Sep;30(6):1671-1675. doi: 10.1097/SCS.0000000000005396. J Craniofac Surg. 2019. PMID: 30950948
This study's goal is to explore the morphological influence of squamosal synostosis in both syndromic and nonsyndromic craniosynostosis patients. METHODS: Twenty-five computed tomography (CT) scans from nonsyndromic squamosal synostosis (NSS), Crouzon syndrome with squamos …
This study's goal is to explore the morphological influence of squamosal synostosis in both syndromic and nonsyndromic craniosynostosis …
Spatial and temporal changes of midface in Apert's syndrome.
Lu X, Forte AJ, Sawh-Martinez R, Wu R, Cabrejo R, Wilson A, Steinbacher DM, Alperovich M, Alonso N, Persing JA. Lu X, et al. J Plast Surg Hand Surg. 2019 Jun;53(3):130-137. doi: 10.1080/2000656X.2018.1541324. Epub 2019 Feb 19. J Plast Surg Hand Surg. 2019. PMID: 30782083
Tranexamic Acid Decreases Blood Transfusion Burden in Open Craniosynostosis Surgery Without Operative Compromise.
Lu VM, Goyal A, Daniels DJ. Lu VM, et al. J Craniofac Surg. 2019 Jan;30(1):120-126. doi: 10.1097/SCS.0000000000004875. J Craniofac Surg. 2019. PMID: 30394976
In the surgical management of craniosynostosis, there is a high red blood cell (RBC) transfusion burden due to the small blood volume of the patients combined with significant blood loss that can occur with open surgery (OS). ...Based on the comparative evidence currently …
In the surgical management of craniosynostosis, there is a high red blood cell (RBC) transfusion burden due to the small blood volume …
Normal angulation of skull base in Apert syndrome.
Lu X, Forte AJ, Sawh-Martinez R, Wu R, Cabrejo R, Steinbacher DM, Alperovich M, Alonso N, Persing JA. Lu X, et al. J Craniomaxillofac Surg. 2018 Dec;46(12):2042-2051. doi: 10.1016/j.jcms.2018.09.026. Epub 2018 Sep 26. J Craniomaxillofac Surg. 2018. PMID: 30391086
Endoscopic versus open approach in craniosynostosis repair: a systematic review and meta-analysis of perioperative outcomes.
Goyal A, Lu VM, Yolcu YU, Elminawy M, Daniels DJ. Goyal A, et al. Childs Nerv Syst. 2018 Sep;34(9):1627-1637. doi: 10.1007/s00381-018-3852-4. Epub 2018 Jun 30. Childs Nerv Syst. 2018. PMID: 29961085
INTRODUCTION: Surgery for craniosynostosis remains a crucial element in successful management. Intervention by both endoscopic and open approaches has been proven effective. ...Future studies will validate the findings of this study and consider long-term outcomes, which w …
INTRODUCTION: Surgery for craniosynostosis remains a crucial element in successful management. Intervention by both endoscopic and op …
Using Black Bone Magnetic Resonance Imaging in Craniofacial Virtual Surgical Planning: A Comparative Cadaver Study.
Suchyta MA, Gibreel W, Hunt CH, Gorny KR, Bernstein MA, Mardini S. Suchyta MA, et al. Plast Reconstr Surg. 2018 Jun;141(6):1459-1470. doi: 10.1097/PRS.0000000000004396. Plast Reconstr Surg. 2018. PMID: 29579018
The aim of this study was to demonstrate whether three-dimensionally-printed craniofacial surgical guides created from "black bone" MRI are comparable in accuracy to those created from CT scans. METHODS: A mock craniosynostosis surgery translocating four calvarial segments …
The aim of this study was to demonstrate whether three-dimensionally-printed craniofacial surgical guides created from "black bone" MRI are …
Craniosynostosis Surgery and the Impact of Tranexamic Acid Dosing.
Kurnik NM, Pflibsen LR, Do A, Bristol R, Singh DJ. Kurnik NM, et al. J Craniofac Surg. 2018 Jan;29(1):96-98. doi: 10.1097/SCS.0000000000004196. J Craniofac Surg. 2018. PMID: 29194278
Consensus does not exist regarding the best dosage regimen for using tranexamic acid (TXA) for patients undergoing open calvarial vault remodeling in craniosynostosis surgery. The purpose of this study was to evaluate 2 dosing protocols, as well as the cost of using TXA. . …
Consensus does not exist regarding the best dosage regimen for using tranexamic acid (TXA) for patients undergoing open calvarial vault remo …
Outcomes of Titanium Mesh Cranioplasty in Pediatric Patients.
Ma IT, Symon MR, Bristol RE, Beals SP, Joganic EF, Adelson PD, Shafron DH, Singh DJ. Ma IT, et al. J Craniofac Surg. 2018 Jan;29(1):99-104. doi: 10.1097/SCS.0000000000004045. J Craniofac Surg. 2018. PMID: 29049146
The most common underlying etiologies were congenital syndromes/craniosynostosis (13 patients), and trauma (11). The majority of patients had prior cranial surgeries (85%). ...
The most common underlying etiologies were congenital syndromes/craniosynostosis (13 patients), and trauma (11). The majority of pati …
Open Craniosynostosis Surgery: Effect of Early Intraoperative Blood Transfusion on Postoperative Course.
Kurnik NM, Bristol R, Maneri C, Singhal R, Singh DJ. Kurnik NM, et al. J Craniofac Surg. 2017 Jul;28(5):e505-e510. doi: 10.1097/SCS.0000000000003803. J Craniofac Surg. 2017. PMID: 28665857
Correction of craniosynostosis can result in blood loss when the patient already has physiologic anemia. The aim of this study was to determine whether patients benefit from early blood transfusion and whether the timing of blood transfusion affects metabolic disturbances …
Correction of craniosynostosis can result in blood loss when the patient already has physiologic anemia. The aim of this study was to …
Tranexamic Acid Reduces Blood Loss in Craniosynostosis Surgery.
Kurnik NM, Pflibsen LR, Bristol RE, Singh DJ. Kurnik NM, et al. J Craniofac Surg. 2017 Jul;28(5):1325-1329. doi: 10.1097/SCS.0000000000003731. J Craniofac Surg. 2017. PMID: 28582303
METHODS: The authors retrospectively reviewed 79 patients with craniosynostosis who underwent either bifrontal or biparietal-occipital calvarial vault remodeling before institution of tranexamic acid (TXA) administration (non-TXA group) and 35 patients after institution of …
METHODS: The authors retrospectively reviewed 79 patients with craniosynostosis who underwent either bifrontal or biparietal-occipita …
Low-Dose CT for Craniosynostosis: Preserving Diagnostic Benefit with Substantial Radiation Dose Reduction.
Montoya JC, Eckel LJ, DeLone DR, Kotsenas AL, Diehn FE, Yu L, Bartley AC, Carter RE, McCollough CH, Fletcher JG. Montoya JC, et al. AJNR Am J Neuroradiol. 2017 Apr;38(4):672-677. doi: 10.3174/ajnr.A5063. Epub 2017 Feb 9. AJNR Am J Neuroradiol. 2017. PMID: 28183836 Free PMC article.
BACKGROUND AND PURPOSE: Given the positive impact of early intervention for craniosynostosis, CT is often performed for evaluation but radiation dosage remains a concern. We evaluated the potential for substantial radiation dose reduction in pediatric patients with suspect …
BACKGROUND AND PURPOSE: Given the positive impact of early intervention for craniosynostosis, CT is often performed for evaluation bu …
Identical Twins Discordant for Metopic Craniosynostosis: Evidence of Epigenetic Influences.
Magge SN, Snyder K, Sajja A, DeFreitas TA, Hofherr SE, Broth RE, Keating RF, Rogers GF. Magge SN, et al. J Craniofac Surg. 2017 Jan;28(1):14-16. doi: 10.1097/SCS.0000000000003368. J Craniofac Surg. 2017. PMID: 28060197
Craniosynostosis, or premature fusion of the cranial sutures, occurs in approximately 1 in 2500 live births. ...Although pathological expression of these mutations often results in bilateral coronal craniosynostosis, single suture fusions (typically unilateral coron …
Craniosynostosis, or premature fusion of the cranial sutures, occurs in approximately 1 in 2500 live births. ...Although pathological …
Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development.
Cao Y, Mitchell EB, Gorski JL, Hollinger C, Hoppman NL. Cao Y, et al. Am J Med Genet A. 2016 Dec;170(12):3276-3281. doi: 10.1002/ajmg.a.37892. Epub 2016 Aug 19. Am J Med Genet A. 2016. PMID: 27541078
Excitingly, further studies in a mouse model have recently demonstrated that FNDC3B is required for normal calvarial bone formation and negatively regulated calvarial cell differentiation through inhibition of BMP/Smad signaling. fndc3b-deficient mice have multiple cranial and sk …
Excitingly, further studies in a mouse model have recently demonstrated that FNDC3B is required for normal calvarial bone formation and nega …
Epigenetic Control of Skeletal Development by the Histone Methyltransferase Ezh2.
Dudakovic A, Camilleri ET, Xu F, Riester SM, McGee-Lawrence ME, Bradley EW, Paradise CR, Lewallen EA, Thaler R, Deyle DR, Larson AN, Lewallen DG, Dietz AB, Stein GS, Montecino MA, Westendorf JJ, van Wijnen AJ. Dudakovic A, et al. J Biol Chem. 2015 Nov 13;290(46):27604-17. doi: 10.1074/jbc.M115.672345. Epub 2015 Sep 30. J Biol Chem. 2015. PMID: 26424790 Free PMC article.
Conditional genetic loss of Ezh2 in uncommitted mesenchymal cells (Prrx1-Cre) results in multiple defects in skeletal patterning and bone formation, including shortened forelimbs, craniosynostosis, and clinodactyly. Histological analysis and mRNASeq profiling suggest that …
Conditional genetic loss of Ezh2 in uncommitted mesenchymal cells (Prrx1-Cre) results in multiple defects in skeletal patterning and bone fo …
Three-dimensional preoperative virtual planning and template use for surgical correction of craniosynostosis.
Mardini S, Alsubaie S, Cayci C, Chim H, Wetjen N. Mardini S, et al. J Plast Reconstr Aesthet Surg. 2014 Mar;67(3):336-43. doi: 10.1016/j.bjps.2013.11.004. Epub 2013 Nov 21. J Plast Reconstr Aesthet Surg. 2014. PMID: 24333232
BACKGROUND: Surgical correction of craniosynostosis aims to remodel the cranial vault to achieve a morphology approaching that of age-matched norms. ...Here, we present our technique and report our experience with the use of virtual surgery using computer-assisted design ( …
BACKGROUND: Surgical correction of craniosynostosis aims to remodel the cranial vault to achieve a morphology approaching that of age …
Venous air embolism from Tisseel use during endoscopic cranial vault remodeling for craniosynostosis repair: a case report.
Felema GG, Bryskin RB, Heger IM, Saswata R. Felema GG, et al. Paediatr Anaesth. 2013 Aug;23(8):754-6. doi: 10.1111/pan.12180. Epub 2013 Jun 7. Paediatr Anaesth. 2013. PMID: 23746210
The incidence of VAE has been reported to be as high as 82.6% during open craniectomy for craniosynostosis repair. On the other hand, two separate studies reported a much lower incidence of VAE (8% and 2%) during endoscopic strip craniectomy. ...
The incidence of VAE has been reported to be as high as 82.6% during open craniectomy for craniosynostosis repair. On the other hand, …
Runx2 protein represses Axin2 expression in osteoblasts and is required for craniosynostosis in Axin2-deficient mice.
McGee-Lawrence ME, Li X, Bledsoe KL, Wu H, Hawse JR, Subramaniam M, Razidlo DF, Stensgard BA, Stein GS, van Wijnen AJ, Lian JB, Hsu W, Westendorf JJ. McGee-Lawrence ME, et al. J Biol Chem. 2013 Feb 22;288(8):5291-302. doi: 10.1074/jbc.M112.414995. Epub 2013 Jan 7. J Biol Chem. 2013. PMID: 23300083 Free PMC article.
In contrast, Axin2-deficient mice develop craniosynostosis because of high beta-catenin activity. Axin2 levels are elevated in Runx2(-/-) calvarial cells, and Runx2 represses transcription of Axin2 mRNA, suggesting a direct relationship between these factors in vivo. ...To …
In contrast, Axin2-deficient mice develop craniosynostosis because of high beta-catenin activity. Axin2 levels are elevated in Runx2( …
Superior oblique tucks for apparent inferior oblique overaction and V-pattern strabismus associated with craniosynostosis.
Holmes JM, Hatt SR, Leske DA. Holmes JM, et al. Strabismus. 2010 Sep;18(3):111-5. doi: 10.3109/09273972.2010.507613. Strabismus. 2010. PMID: 20843188 Free PMC article.
We present a patient with craniosynostosis who underwent bilateral superior oblique tucks to specifically address the excyclotorsion of the globes. ...CONCLUSIONS: Bilateral superior oblique tucks are useful in addressing the excyclotorsion that leads to apparent inferior …
We present a patient with craniosynostosis who underwent bilateral superior oblique tucks to specifically address the excyclotorsion …
Fetal and neonatal hyperthyroidism.
Zimmerman D. Zimmerman D. Thyroid. 1999 Jul;9(7):727-33. doi: 10.1089/thy.1999.9.727. Thyroid. 1999. PMID: 10447021 Review.
Fetal hyperthyroidism may be associated with intrauterine growth retardation, nonimmune fetal hydrops, craniosynostosis, and intrauterine death. Features of this condition in the neonate include hyperkinesis, diarrhea, poor weight gain, vomiting, ophthalmopathy, cardiac fa …
Fetal hyperthyroidism may be associated with intrauterine growth retardation, nonimmune fetal hydrops, craniosynostosis, and intraute …
Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two non-mosaic daughters.
Babovic-Vuksanovic D, Westman JA, Jalal SM, Lindor NM. Babovic-Vuksanovic D, et al. Clin Dysmorphol. 1998 Jul;7(3):171-6. doi: 10.1097/00019605-199807000-00003. Clin Dysmorphol. 1998. PMID: 9689989
Manifestations in our three patients were similar to those in previously reported cases with 17q partial duplications, but also included brachydactyly and craniosynostosis. These findings represent additional clinical characteristics of distal 17q duplication and may indic …
Manifestations in our three patients were similar to those in previously reported cases with 17q partial duplications, but also included bra …
Antley-Bixler syndrome: a case report and discussion.
LeBard SE, Thiemann LJ. LeBard SE, et al. Paediatr Anaesth. 1998;8(1):89-91. doi: 10.1046/j.1460-9592.1998.00710.x. Paediatr Anaesth. 1998. PMID: 9483606
Primary features include significant craniosynostosis, midface hypoplasia with choanal stenosis or atresia, femoral bowing, radiohumeral synostosis, and multiple joint contractures. ...This report describes the management of a four-month-old male who underwent cranial vaul …
Primary features include significant craniosynostosis, midface hypoplasia with choanal stenosis or atresia, femoral bowing, radiohume …
Microvascular surgery as an adjunct to craniomaxillofacial reconstruction.
Fisher J, Jackson IT. Fisher J, et al. Br J Plast Surg. 1989 Mar;42(2):146-54. doi: 10.1016/0007-1226(89)90196-3. Br J Plast Surg. 1989. PMID: 2702362
In 12 patients the free flap was performed simultaneously with the bony procedure and in three it was a secondary procedure. The patients included two craniosynostosis, four craniofacial tumours, five hemicraniofacial microsomias, one facial and skull base arteriovenous ma …
In 12 patients the free flap was performed simultaneously with the bony procedure and in three it was a secondary procedure. The patients in …
Orbital expansion in plagiocephaly.
Jackson IT, Costanzo C, Marsh WR, Adham M. Jackson IT, et al. Br J Plast Surg. 1988 Jan;41(1):16-9. doi: 10.1016/0007-1226(88)90138-5. Br J Plast Surg. 1988. PMID: 3345403