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Craniosynostosis

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https://www.readbyqxmd.com/read/28087347/oct-documented-optic-atrophy-in-nonsyndromic-craniosynostosis-and-lacunar-skull
#1
Neelam Pawar, S Padmavathy, Devendra Maheshwari, Meenakshi Ravindran, R Ramakrishanan
No abstract text is available yet for this article.
January 10, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28087285/apert-syndrome-a-consensus-on-the-management-of-apert-hands
#2
David A Pettitt, Zeeshaan Arshad, Anuj Mishra, Paul McArthur
INTRODUCTION: Apert Syndrome is a congenital condition characterised by primary craniosynostosis, midfacial malformations and complex symmetrical malformations of the hands and feet. The hands demonstrate one of the most complex collections of congenital upper limb deformities, posing a significant challenge for the paediatric hand surgeon. This study examines the extant literature and current practice of the four UK specialist craniofacial units regarding the management of Apert hands in order to provide a basis for guideline development...
December 10, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28069589/analysis-of-the-fgfr2c342y-mouse-model-shows-condensation-defects-due-to-misregulation-of-sox9-expression-in-prechondrocytic-mesenchyme
#3
Emma Peskett, Samin Kumar, William Baird, Janhvi Jaiswal, Ming Li, Priyanca Patel, Jonathan A Britto, Erwin Pauws
Syndromic craniosynostosis caused by mutations in FGFR2 is characterised by developmental pathology in both endochondral and membranous skeletogenesis. Detailed phenotypic characterisation of features in the membranous calvarium, the endochondral cranial base and other structures in the axial and appendicular skeleton has not been performed at embryonic stages. We investigated bone development in the Crouzon mouse model (Fgfr2(C342Y)) at pre- and post-ossification stages to improve understanding of the underlying pathogenesis...
January 9, 2017: Biology Open
https://www.readbyqxmd.com/read/28064284/surgery-modified-pi-with-triple-bonnet-flap-and-fronto-orbital-advancement
#4
Uday Singh Raswan, Sarbjit Singh Chhiber, Altaf Umar Ramzan
INTRODUCTION: Craniosynostosis is the premature fusion of one or more of the cranial sutures and can occur as part of a syndrome or as an isolated defect. Pansynostosis is a rare form of craniosynostosis that involves premature fusion of all the cranial sutures (coronal, sagittal, metopic, and occipital). Particularly in cases of late presentation, there are heightened clinical concerns, both functional and aesthetic. In untreated cases of pansynostosis and increased intracranial pressure, optic nerve damage progresses to optic atrophy and then blindness...
January 7, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28060197/identical-twins-discordant-for-metopic-craniosynostosis-evidence-of-epigenetic-influences
#5
Suresh N Magge, Kendall Snyder, Aparna Sajja, Tiffani A DeFreitas, Sean E Hofherr, Richard E Broth, Robert F Keating, Gary F Rogers
Craniosynostosis, or premature fusion of the cranial sutures, occurs in approximately 1 in 2500 live births. The genetic causes and molecular basis of these disorders have greatly expanded over the last 2 decades, with numerous causative and contributory mutations having been identified. The role of fibroblast growth factor receptor (FGFR) mutations in the etiology of certain eponymous forms of craniosynostosis is now well elucidated; the most common syndromes associated with craniosynostosis are Pfeifer (FGFR1, FGFR2), Apert (FGFR2), Crouzon (FGFR2), Saethre-Chotzen (TWIST1), Jackson-Weiss (FGFR2), Greig (GL13), and Muenke (FGFR3) syndromes...
January 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28035428/raised-intracranial-pressure-as-a-result-of-pansynostosis-in-a-child-with-albright-s-hereditary-osteodystrophy
#6
Sepehr Mamoei, Søren Cortnum
CASE: The authors describe the case of an 8-year-old boy with pansynostosis in the context of Albright's hereditary osteodystrophy (AHO). This condition had lead to raised intracranial pressure (ICP). The elevated ICP was a consequence of the rigid skull impeding brain growth. Therefore, a decompressive cranioplasty was performed successfully, leaving further space for the growing brain. Affection of the central nervous system has been documented in AHO. However, affection of the skull bones has rarely been described in literature...
December 29, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28034625/patient-specific-biodegradable-implant-in-pediatric-craniofacial-surgery
#7
H Essig, D Lindhorst, T Gander, P Schumann, D Könü, S Altermatt, M Rücker
Surgical correction of premature fusion of calvarial sutures involving the fronto-orbital region can be challenging due to the demanding three-dimensional (3D) anatomy. If fronto-orbital advancement (FOA) is necessary, surgery is typically performed using resorbable plates and screws that are bent manually intraoperatively. A new approach using individually manufactured resorbable implants (KLS Martin Group, Tuttlingen, Germany) is presented in the current paper. Preoperative CT scan data were processed in iPlan (ver...
November 30, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28034516/-guide-to-clinical-practice-for-the-diagnosis-treatment-and-rehabilitation-of-non-syndromic-craniosynostosis-on-3-levels-of-care
#8
Dulce María Castro Coyotl, Xanath Olivia Rosas Huerta, José Juan Sánchez Vázquez, Margarita Isabel Díaz Sánchez, José Salvador Rodríguez Peralta, Juan Manuel Tetitla Munive, María de Lourdes Peralta Porras, Alejandra Janeth Arellano Cruz, Jesús Ojino Sosa García, Christian Javier Fareli González
INTRODUCTION: Craniosynostosis is a congenital anomaly resulting from the premature fusion of the cranial sutures changing growth patterns of the skull. METHODOLOGY: Focus, scope, target population and clinical questions to be solved were defined. A systematic search for evidence in different databases (Medline, Embase, KoreaMed, Cochrane Library and the website of the World Health Organization) in stages was performed: clinical practice guidelines; systematic reviews, and clinical trials and observational studies; using MeSH, Decs and corresponding free terms, unrestricted language or temporality...
December 26, 2016: Cirugia y Cirujanos
https://www.readbyqxmd.com/read/28029756/when-and-why-to-treat-the-child-who-snores
#9
Hui-Leng Tan, Maria Luz Alonso Alvarez, Marina Tsaoussoglou, Silke Weber, Athanasios G Kaditis
Obstructive sleep-disordered breathing (SDB) can result in cardiovascular and neurocognitive morbidity as well as adversely affect behavior, growth, quality of life, and nocturnal continence. This article summarizes the latest evidence regarding the morbidity related to obstructive SDB, commenting on the impact of severity of obstruction, that is, the difference in effects seen of moderate to severe obstructive sleep apnea syndrome (OSAS) compared to those of mild OSAS or primary snoring. The impact of therapy is discussed, focusing on which children are likely to benefit from treatment interventions; namely those with moderate or severe OSAS irrespective of the presence of morbidity, children with mild OSAS with associated morbidity or predictors of SDB persistence such as obesity, and children with complex conditions accompanied by upper airway obstruction like craniosynostosis and Prader-Willi syndrome...
December 28, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28027243/correction-of-sagittal-craniosynostosis-using-distraction-osteogenesis-based-on-strategic-categorization
#10
Myung Chul Lee, Kyu Won Shim, In Sik Yun, Eun Kyung Park, Yong Oock Kim
BACKGROUND: Distraction osteogenesis has been used to correct sagittal craniosynostosis in various ways. The purpose of this study was to introduce three distraction osteogenesis procedures by describing four objective measurements. METHODS: Fifty-four patients with sagittal synostosis were recruited and assigned to one of three therapeutic groups: group 1, anteroposterior compression with bitemporal expansion (n = 35); group 2, bitemporal expansion (n = 9); and group 3, anteroposterior expansion with bitemporal expansion (n = 10)...
January 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28027187/analysis-of-morbidity-readmission-and-reoperation-after-craniosynostosis-repair-in-children
#11
Kevin T Jubbal, Nikhil Agrawal, Larry H Hollier
The impact of specific patient comorbidities on outcomes in craniosynostosis surgical repair is not well defined. The aim of this retrospective review was to evaluate the short-term 30-day reoperation rate, unplanned readmission rate, and overall morbidity of craniosynostosis surgical repair using the 2012 through 2014 American College of Surgeons National Surgical Quality Improvement Program-Pediatrics (ACS NSQIP-Pediatric) database. Overall morbidity included pneumonia, wound occurrence, shock/sepsis, venous thromboembolism, cardiac complication, renal and urinary complications, or nerve injury...
December 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005766/three-dimensional-handheld-scanning-to-quantify-head-shape-changes-in-spring-assisted-surgery-for-sagittal-craniosynostosis
#12
Maik Tenhagen, Jan L Bruse, Naiara Rodriguez-Florez, Freida Angullia, Alessandro Borghi, Maarten J Koudstaal, Silvia Schievano, Owase Jeelani, David Dunaway
Three-dimensional (3D) imaging is an important tool for diagnostics, surgical planning, and evaluation of surgical outcomes in craniofacial procedures. Gold standard for acquiring 3D imaging is computed tomography that entails ionizing radiations and, in young children, a general anaesthesia. Three-dimensional photographic imaging is an alternative method to assess patients who have undergone calvarial reconstructive surgery. The aim of this study was to assess the utility of 3D handheld scanning photography in a cohort of patients who underwent spring-assisted correction surgery for scaphocephaly...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27991737/cover-image-volume-173a-number-1-january-2017
#13
James J O'Byrne, Helen Ryan, Dylan J Murray, Regina Regan, David R Betts, Nuala Murphy, Jillian P Casey, Sally A Lynch
The cover image, by James J. O'Byrne et al., is based on the Clinical Report Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation, DOI: 10.1002/ajmg.a.38001.
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27977460/perioperative-outcomes-and-management-in-pediatric-complex-cranial-vault-reconstruction-a-multicenter-study-from-the-pediatric-craniofacial-collaborative-group
#14
Paul A Stricker, Susan M Goobie, Franklyn P Cladis, Charles M Haberkern, Petra M Meier, Srijaya K Reddy, Thanh T Nguyen, Lingyu Cai, Marcia Polansky, Peter Szmuk, John Fiadjoe, Codruta Soneru, Ricardo Falcon, Timothy Petersen, Courtney Kowalczyk-Derderian, Nicholas Dalesio, Stefan Budac, Neels Groenewald, Daniel Rubens, Douglas Thompson, Rheana Watts, Katherine Gentry, Iskra Ivanova, Mali Hetmaniuk, Vincent Hsieh, Michael Collins, Karen Wong, Wendy Binstock, Russell Reid, Kim Poteet-Schwartz, Heike Gries, Rebecca Hall, Jeffrey Koh, Carolyn Bannister, Wai Sung, Anu Jain, Allison Fernandez, Gerald F Tuite, Ernesto Ruas, Oleg Drozhinin, Lisa Tetreault, Bridget Muldowney, Karene Ricketts, Patrick Fernandez, Lisa Sohn, John Hajduk, Brad Taicher, Jessica Burkhart, Allison Wright, Jane Kugler, Lea Barajas-DeLoa, Meera Gangadharan, Veronica Busso, Kayla Stallworth, Susan Staudt, Kristen L Labovsky, Chris D Glover, Henry Huang, Helena Karlberg-Hippard, Samantha Capehart, Cynthia Streckfus, Kim-Phuong T Nguyen, Peter Manyang, Jose Luis Martinez, Jennifer K Hansen, Heather Mitzel Levy, Alyssa Brzenski, Franklin Chiao, Pablo Ingelmo, Razaz Mujallid
BACKGROUND: The Pediatric Craniofacial Collaborative Group established the Pediatric Craniofacial Surgery Perioperative Registry to elucidate practices and outcomes in children with craniosynostosis undergoing complex cranial vault reconstruction and inform quality improvement efforts. The aim of this study is to determine perioperative management, outcomes, and complications in children undergoing complex cranial vault reconstruction across North America and to delineate salient features of current practices...
December 12, 2016: Anesthesiology
https://www.readbyqxmd.com/read/27959899/effects-of-in-utero-thyroxine-exposure-on-murine-cranial-suture-growth
#15
R Nicole Howie, Emily L Durham, Laurel Black, Grace Bennfors, Trish E Parsons, Mohammed E Elsalanty, Jack C Yu, Seth M Weinberg, James J Cray
Large scale surveillance studies, case studies, as well as cohort studies have identified the influence of thyroid hormones on calvarial growth and development. Surveillance data suggests maternal thyroid disorders (hyperthyroidism, hypothyroidism with pharmacological replacement, and Maternal Graves Disease) are linked to as much as a 2.5 fold increased risk for craniosynostosis. Craniosynostosis is the premature fusion of one or more calvarial growth sites (sutures) prior to the completion of brain expansion...
2016: PloS One
https://www.readbyqxmd.com/read/27957430/signaling-mechanisms-implicated-in-cranial-sutures-pathophysiology-craniosynostosis
#16
REVIEW
Maria A Katsianou, Christos Adamopoulos, Heleni Vastardis, Efthimia K Basdra
Normal extension and skull expansion is a synchronized process that prevails along the osteogenic intersections of the cranial sutures. Cranial sutures operate as bone growth sites allowing swift bone generation at the edges of the bone fronts while they remain patent. Premature fusion of one or more cranial sutures can trigger craniosynostosis, a birth defect characterized by dramatic manifestations in appearance and functional impairment. Up until today, surgical correction is the only restorative measure for craniosynostosis associated with considerable mortality...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#17
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27906843/comparison-of-resorbable-plating-systems-complications-during-degradation
#18
Dennis C Nguyen, Albert S Woo, Scott J Farber, Gary B Skolnick, Jenny Yu, Sybill D Naidoo, Kamlesh B Patel
INTRODUCTION: Several bioresorbable plating systems have become standard in pediatric craniosynostosis reconstruction. A comparison of these systems is needed to aid surgeons in the preoperative planning process. The authors aim to evaluate 1 institution's experience using Resorb-X by KLS Martin and Delta Resorbable Fixation System by Stryker (Stryker Craniomaxillofacial, Kalamazoo, MI). METHODS: A sample of patients with single-suture nonsyndromic craniosynostosis treated at St Louis Children's Hospital between 2007 and 2014 using either Resorb-X or Delta bioresorbable plating systems were reviewed...
November 30, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#19
REVIEW
Amanda J Yoon, Binh N Pham, Katrina M Dipple
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27891566/sudden-death-associated-with-syndromic-craniosynostosis
#20
Alžbeta Ginelliová, Daniel Farkaš, Silvia Farkašová Iannaccone, Vlasta Vyhnálková, Peter Vasovčák
In this paper we report the autopsy findings of a 7 year old girl who presented with headache, nausea and repeated vomiting and died unexpectedly at home. She had no previous history of major illnesses and no history of epileptic seizures. External examination revealed ocular abnormalities. Internal examination demonstrated severe cerebral edema with tonsillar herniation, premature fusion of the cranial bone sutures, and prominent convolutional markings of the inner table of the skull. Death was due to severe cerebral edema complicating syndromic craniosynostosis...
December 2016: Forensic Science, Medicine, and Pathology
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