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Craniosynostosis

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https://www.readbyqxmd.com/read/29351036/crouzon-with-acanthosis-nigricans-and-odontogenic-tumors-a-rare-form-of-syndromic-craniosynostosis
#1
Wen Xu, Donna M McDonald-McGinn, Alexandra J Melchiorre, Elaine H Zackai, Scott P Bartlett, Jesse A Taylor
Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. Diagnosis through the use of genetic mutational analysis is critical, as it alerts the surgeon to the need for careful screening for jaw tumors so that timely treatment in the form of curettage or segmental resection can be provided...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29351022/a-survey-of-orthodontic-treatment-in-team-care-for-patients-with-syndromic-craniosynostosis-in-japan
#2
Takafumi Susami, Toshihiko Fukawa, Haruyo Miyazaki, Teruo Sakamoto, Tadashi Morishita, Yoshiaki Sato, Yoshiaki Kinno, Kazuyuki Kurata, Keiichiro Watanabe, Toshikazu Asahito, Isao Saito
OBJECTIVE: To understand the actual condition of orthodontic treatment in team care for patients with syndromic craniosynostosis (SCS) in Japan. DESIGN: A nationwide collaborative survey. SETTING: Twenty-four orthodontic clinics in Japan. PATIENTS: A total of 246 patients with SCS. MAIN OUTCOME MEASURE: Treatment history was examined based on orthodontic records using common survey sheets. RESULTS: Most patients first visited the orthodontic clinic in the deciduous or mixed dentition phase...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29346558/thoraco-abdominal-aortic-aneurysm-rupture-in-a-patient-with-shprintzen-goldberg-syndrome
#3
Naritaka Kimura, Yu Inaba, Kaori Kameyama, Hideyuki Shimizu
Shprintzen-Goldberg syndrome is a rare systemic connective tissue disorder characterized by craniosynostosis, skeletal abnormalities, infantile hypotonia, mild-to-moderate intellectual disability and cardiovascular anomalies. To our knowledge, this is the first report of a Shprintzen-Goldberg syndrome patient who developed a thoraco-abdominal aortic aneurysm. The aneurysm grew rapidly necessitating emergent thoraco-abdominal aortic replacement. The postoperative course was uneventful, and a careful lifetime follow-up was planned...
January 16, 2018: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29345318/retrospective-study-on-midfacial-advancement-in-syndromic-craniosynostosis-case-series
#4
Márcia Pereira Guaita, Maristela Pereira, Vera Lúcia Nocchi Cardim, Flávia Gonçalves, Sérgio Allegrini Júnior
AIMS: The aim of this study was to evaluate elastic distraction surgical procedures performed on patients with syndromic craniosynostosis using cephalometric analyses. METHODS: Eleven patients who underwent surgical midfacial advancement were divided into three groups: G1 - monobloc frontofacial; G2 - Le Fort III; and G3 - high-level Le Fort I. The cephalometric analyses were manually created through cephalometric radiographs of each patient: T1 - preoperative; T2 - 6 months postoperatively; and T3 - 12 months postoperatively...
January 18, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29335798/3d-morphological-change-of-skull-base-and-fronto-temporal-soft-tissue-in-the-patients-with-unicoronal-craniosynostosis-after-fronto-orbital-advancement
#5
Bin Yang, Jian Ni, Binghang Li
PURPOSE: This study aims to comprehensively evaluate the deformation of the skull base and fronto-temporal soft tissue in the patients with anterior plagiocephaly over 1 year of age by three-dimensional (3D) imaging after fronto-orbital advancement (FOA). METHODS: We quantitatively analyzed the surgical results and outcome of FOA performed in 10 patients with anterior plagiocephaly. The measurements of the skull base and fronto-temporal soft tissue were performed based on 3D computed tomography (CT) scan...
January 15, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29321071/head-circumference-a-useful-single-parameter-for-skull-volume-development-in-cranial-growth-analysis
#6
Markus Martini, Anne Klausing, Guido Lüchters, Nils Heim, Martina Messing-Jünger
BACKGROUND: The measurement of maximal head circumference is a standard procedure in the examination of childrens' cranial growth and brain development. The objective of the study was to evaluate the validity of maximal head circumference to cranial volume in the first year of life using a new method which includes ear-to-ear over the head distance and maximal cranial length measurement. METHODS: 3D surface scans for cranial volume assessment were conducted in this method comparison study of 44 healthy Caucasian children (29 male, 15 female) at the ages of 4 and 12 months...
January 10, 2018: Head & Face Medicine
https://www.readbyqxmd.com/read/29307033/centile-charts-for-cranial-sutures-in-children-younger-than-1-year-based-on-ultrasound-measurements
#7
Katya Rozovsky, Nicholas James Barrowman, Elka Miller
BACKGROUND: Cranial US allows for the evaluation of premature closure (synostosis) or abnormal widening of the cranial sutures. An understanding of the normal anatomy is required to help define the presence or absence of abnormality. OBJECTIVE: To provide reference for normal ultrasound measurements of cranial sutures during the child's first year. MATERIALS AND METHODS: We included children ages 0 to 12 months who were referred to the hospital during 2011-2013 for radiographic evaluation of cranial sutures...
January 6, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29286994/the-effect-of-midface-advancement-surgery-on-obstructive-sleep-apnoea-in-syndromic-craniosynostosis
#8
Clair Saxby, Kate A Stephenson, Katherine Steele, Sonna Ifeacho, Michelle E Wyatt, Martin Samuels
BACKGROUND: Children with syndromic craniosynostosis frequently suffer from obstructive sleep apnoea (OSA). The aim of the authors' study was to investigate if midface advancement surgery for patients with SC improved the severity of OSA by examining the results of sleep studies before and after surgery. METHODS: A retrospective comparison of the pre and postoperative sleep study data of children undergoing midface advancement surgery at Great Ormond Street Hospital between 2007 and 2016...
January 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29280877/choanal-atresia-and-craniosynostosis-development-and-disease
#9
Kate M Lesciotto, Yann Heuzé, Ethylin Wang Jabs, Joseph M Bernstein, Joan T Richtsmeier
A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis...
January 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29258937/iatrogenic-pseudoaneurysm-of-the-superficial-temporal-artery-after-surgery-for-scaphocephaly-case-report-and-review-of-the-literature
#10
P Anania, M Pacetti, M Ravegnani, M Pavanello, G Piatelli, A Consales
BACKGROUND: Iatrogenic pseudoaneurysm of the superficial temporal artery after surgery for craniosynostosis is a complication that has never been described in the pertinent literature. Although reported for other types of surgeries, no case has been described in the pediatric population. CASE DESCRIPTION: We report on a case of pseudoaneurysm of the superficial temporal artery occurred 9 days after corrective surgery for scaphocephaly. We describe also the management of this complication CONCLUSION: Pseudoaneurysm is an exceptional complication in surgery for craniosynostosis, but it should be considered in case of swelling in the temporal region...
December 16, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29245229/novel-chromosomal-microduplications-associated-with-dolichocephaly-craniosynostosis-a-case-report
#11
Dongyi Yu, Shuo Li, Qi Liu, Kai Zhang
INSTRUCTION: Craniosynostosis is a human disorder characterized by the premature fusing of the cranial sutures in infants. Point mutations in hotspot genes such as FGFRs are the well-recognized causes of syndromic craniosynostosis, but chromosomal abbreviations may also play an important role in developing this disease. Here, we report the case in China of a 2-year-boy dolichocephaly craniosynostosis. Karyotyping by both G-bind staining and array-based DNA hybridization identified microduplications on Chromosomes 8p11...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29243252/predicting-calvarial-growth-in-normal-and-craniosynostotic-mice-using-a-computational-approach
#12
Arsalan Marghoub, Joseph Libby, Christian Babbs, Erwin Pauws, Michael J Fagan, Mehran Moazen
During postnatal calvarial growth the brain grows gradually and the overlying bones and sutures accommodate that growth until the later juvenile stages. The whole process is coordinated through a complex series of biological, chemical and perhaps mechanical signals between various elements of the craniofacial system. The aim of this study was to investigate to what extent a computational model can accurately predict the calvarial growth in wild-type (WT) and mutant type (MT) Fgfr2C342Y/+ mice displaying bicoronal suture fusion...
December 15, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/29236889/syndromic-craniosynostosis-neuropsycholinguistic-abilities-and-imaging-analysis-of-the-central-nervous-system
#13
Luciana Paula Maximino, Luis Gustavo Ducati, Dagma Venturini Marques Abramides, Camila de Castro Corrêa, Patrícia Fernandes Garcia, Adriano Yacubian Fernandes
OBJECTIVE: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. METHODS: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test...
December 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29230096/fibroblast-growth-factor-receptor-2-fgfr2-mutation-related-syndromic-craniosynostosis
#14
REVIEW
Saïd C Azoury, Sashank Reddy, Vivek Shukla, Chu-Xia Deng
Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various craniosynostotic syndromes including Crouzon, Apert, Pfeiffer, Antley-Bixler, Beare-Stevenson cutis gyrata, Jackson-Weiss, Bent Bone Dysplasia, and Seathre-Chotzen-like syndromes...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/29227405/osseous-convexity-at-the-anterior-fontanelle-a-presentation-of-metopic-fusion
#15
Alexander Haosi Sun, John A Persing
BACKGROUND: Craniosynostosis, or a premature fusion of 1 or more cranial vault sutures, results in characteristic head shape deformities. In previous reports, an osseous prominence at the anterior fontanelle has been suggestive of adjacent suture fusion and local elevation in intracranial pressure (ICP). This prominence has been termed the "volcano" sign, and has been described in the anterior fusion of the sagittal suture and serves as an indication for surgery. METHODS: Two patients presented for head shape evaluation with mild metopic ridging and anterior fontanellar osseous convexities consistent with the volcano sign...
December 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29223639/extensive-phenotyping-of-the-orofacial-and-dental-complex-in-crouzon-syndrome
#16
Alexander Khominsky, Robin Yong, Sarbin Ranjitkar, Grant Townsend, Peter J Anderson
OBJECTIVES: Fibroblast growth factor receptor 2 (FGFR2) C342Y/+ mutation is a known cause of Crouzon syndrome that is characterised by craniosynostosis and midfacial hypoplasia. Our aim was to conduct extensive phenotyping of the maxillary, mandibular and dental morphology associated with this mutation. MATERIALS AND METHODS: Morphometric data were obtained from 40 mice, representing two genotypes (Crouzon and wild-type) and two sexes (males and females) (n=10 in each group)...
October 27, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/29215649/a-craniosynostosis-massively-parallel-sequencing-panel-study-in-309-australian-and-new-zealand-patients-findings-and-recommendations
#17
Eric Lee, Trang Le, Ying Zhu, George Elakis, Anne Turner, William Lo, Hanka Venselaar, Carol-Ann Verrenkamp, Nicole Snow, David Mowat, Edwin Philip Kirk, Rani Sachdev, Janine Smith, Natasha Jane Brown, Mathew Wallis, Chris Barnett, Fiona McKenzie, Mary-Louise Freckmann, Felicity Collins, Maya Chopra, Nerine Gregersen, Ian Hayes, Sulekha Rajagopalan, Tiong Yang Tan, Zornitza Stark, Ravi Savarirayan, Alison Yeung, Lesley Adès, Michael Gattas, Kate Gibson, Michael Gabbett, David John Amor, Wanda Lattanzi, Simeon Boyd, Eric Haan, Mark Gianoutsos, Timothy Chilton Cox, Michael Francis Buckley, Tony Roscioli
PurposeThe craniosynostoses are characterized by premature fusion of one or more cranial sutures. The relative contribution of previously reported genes to craniosynostosis in large cohorts is unclear. Here we report on the use of a massively parallel sequencing panel in individuals with craniosynostosis without a prior molecular diagnosis.MethodsA 20-gene panel was designed based on the genes' association with craniosynostosis, and clinically validated through retrospective testing of an Australian and New Zealand cohort of 233 individuals with craniosynostosis in whom previous testing had not identified a causative variant within FGFR1-3 hot-spot regions or the TWIST1 gene...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29198073/apert-syndrome-magnetic-resonance-imaging-mri-of-associated-intracranial-anomalies
#18
REVIEW
Ai Peng Tan, Kshitij Mankad
INTRODUCTION: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutations in genes encoding fibroblast growth factor receptor 2 (FGFR2). It is characterized by multisuture craniosynostosis, midfacial hypoplasia, abnormal skull base development and syndactyly of all extremities. Apert syndrome is associated with a wide array of central nervous system (CNS) anomalies, possibly the cause of the common occurrence of mental deficiency in patients with Apert syndrome...
December 2, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29194278/craniosynostosis-surgery-and-the-impact-of-tranexamic-acid-dosing
#19
Nicole M Kurnik, Lacey R Pflibsen, Annie Do, Ruth Bristol, Davinder J Singh
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. Previously, the institutional protocol was to give patients undergoing open calvarial vault remodeling a loading infusion of TXA (10 mg/kg) at the start of their procedure, after which intravenous TXA (5 mg/kg/h) was given throughout surgery and for 24 hours postoperatively...
November 20, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29194263/the-value-of-a-photobook-in-informing-families-about-the-cosmetic-results-of-surgery-in-craniosynostosis
#20
Helen Care, Louise Dalton, David Johnson
This paper outlines the development and evaluation of a photobook resource to support parents' decision making regarding potential craniofacial surgery for their child. The photobook was developed at a UK Craniofacial Unit and consisted of preoperative and postoperative photographs of patients with craniosynostosis. It was intended to act as a visual adjunct to detailed verbal discussion of surgical treatment options. No changes in the uptake rate of surgery were detected following the introduction of the photobook...
November 29, 2017: Journal of Craniofacial Surgery
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