8,466 results match your criteria Craniosynostosis

Epsilon Aminocaproic Acid's Safety and Efficacy in Pediatric Surgeries Including Craniosynostosis Repair: A Review of the Literature.

Cureus 2022 May 21;14(5):e25185. Epub 2022 May 21.

Pediatric Surgery, University of Central Florida College of Medicine, Orlando, USA.

Craniosynostosis, the premature fusion of skull sutures in children, requires surgical correction. This procedure routinely requires allogeneic blood transfusions, which are associated with multiple risks of their own. Since 2008, antifibrinolytics tranexamic acid (TXA) and epsilon aminocaproic acid (EACA or Amicar) have been widely used. Read More

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Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery".

Cereb Cortex 2022 Jun 24. Epub 2022 Jun 24.

Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Recent trio-based whole-exome sequencing studies of congenital hydrocephalus and nonsyndromic craniosynostosis have identified multiple novel disease genes that have illuminated the pathogenesis of these disorders and shed new insight into the genetic regulation of human brain and skull development. Continued study of these and other historically understudied developmental anomalies has the potential to replace the current antiquated, anatomically based disease classification systems with a molecular nomenclature that may increase precision for genetic counseling, prognostication, and surgical treatment stratification-including when not to operate. Data will also inform future clinical trials, catalyze the development of targeted therapies, and generate infrastructure and publicly available data sets relevant for other related nonsurgical neurodevelopmental and neuropsychiatric diseases. Read More

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somatic mosaicism in a patient with bilateral optic nerve sheath meningiomas: illustrative case.

J Neurosurg Case Lessons 2022 Jun 6;3(23):CASE2247. Epub 2022 Jun 6.

Departments of Ophthalmology.

Background: In the past decade, next-generation sequencing has spurred significant progress in the understanding of cytogenetic alterations that occur in meningiomas. Eighty percent of adult meningiomas harbor pathogenic somatic variants involving , , , , , or Somatic variants in associated with meningiomas usually localize to the gene's WD40 domains but are mutually exclusive to germline mutations, which cause a distinctive autosomal dominant syndrome.

Observations: This case involved a 15-year-old girl with bilateral optic nerve sheath meningiomas, diffuse meningiomatosis, and syndromic features, including craniosynostosis, brain anomalies, syndactyly, brachydactyly, epicanthus, and patent ductus arteriosus. Read More

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Appearance or attitude: what matters to craniosynostosis patients? Association of self-esteem, depressive symptoms, and facial aesthetics in patients with sagittal and metopic synostosis.

Childs Nerv Syst 2022 Jun 23. Epub 2022 Jun 23.

Research Unit of Clinical Neuroscience, Oulu University Hospital and University of Oulu, Oulu, Finland.

Purpose: The aim of this study was to investigate the presence of depressive symptoms and self-esteem, and their association with facial asymmetry in adults who were operated on in early childhood due to metopic and sagittal craniosynostosis.

Methods: The study population consisted of 49 non-syndromic patients of whom 41 had premature fusion of the sagittal and 8 of metopic suture. There were 64 controls from the Finnish National Register. Read More

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Helmet therapy for positional cranial deformations; a 5-year follow-up study.

J Craniomaxillofac Surg 2022 Jun 31;50(6):499-503. Epub 2022 May 31.

MUMC, P. Debyelaan 25, 6229 HX Maastricht, the Netherlands.

The aim of this study was to assess the long-term effects of helmet therapy in its use for positional cranial deformation, such as plagiocephaly and brachycephaly, by evaluating head shapes in children with a 5-year interval. These children were included at a neonatal age, with a deviating cranial shape classified as positional deformation, and received different forms of therapy, varying from none to physical and helmet therapy combined. Cranial shape was measured before and after therapy, using plagiocephalometry. Read More

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Normocephalic sagittal craniosynostosis in young children is common and unrecognized.

Childs Nerv Syst 2022 Jun 18. Epub 2022 Jun 18.

Division of Plastic and Reconstructive Surgery, Children's National Hospital, DC, 20010, Washington, USA.

Objective: Sagittal craniosynostosis (SC) is usually diagnosed during early childhood by the presence of scaphocephaly. Recently, our group found 3.3% of children under 5 years of age with normocephalic sagittal craniosynostosis (NSC) using computed tomography (CT) scans. Read More

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Deep-learning synthesized pseudo-CT for MR high-resolution pediatric cranial bone imaging (MR-HiPCB).

Magn Reson Med 2022 Jun 17. Epub 2022 Jun 17.

Department of Biomedical Engineering, Washington University in St. Louis, St. Louis, Missouri.

Purpose: CT is routinely used to detect cranial abnormalities in pediatric patients with head trauma or craniosynostosis. This study aimed to develop a deep learning method to synthesize pseudo-CT (pCT) images for MR high-resolution pediatric cranial bone imaging to eliminating ionizing radiation from CT.

Methods: 3D golden-angle stack-of-stars MRI were obtained from 44 pediatric participants. Read More

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Cranial Morphology Associated With Syndromic Craniosynostosis: A Potential Detection of Abnormality in Patient's Cranial Growth Using Angular Statistics.

Cleft Palate Craniofac J 2022 Jun 16:10556656221107524. Epub 2022 Jun 16.

Centre for Defence Foundation Studies, 132053National Defence University of Malaysia, Kuala Lumpur, Malaysia.

Introduction: Apert, Crouzon, and Pfeiffer syndromes are common genetic syndromes related to syndromic craniosynostosis (SC), whereby it is a congenital defect that occurs when the cranial growth is distorted. Identifying cranial angles associated with these 3 syndromes may assist the surgical team to focus on a specific cranial part during the intervention planning, thus optimizing surgical outcomes and reducing potential morbidity.

Objective: The aim of this study is to identify the cranial angles, which are associated with Apert, Crouzon, and Pfeiffer syndromes. Read More

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structural variants disrupting transcriptional regulation lead to craniofacial and limb malformations.

Genome Res 2022 Jun 16. Epub 2022 Jun 16.

Ben-Gurion University of the Negev;

Structural variants (SVs) can affect protein-coding sequences as well as gene regulatory elements. 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 disruption of regulatory elements that reside within sequence. Read More

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Low-Cost Simulation Model for Endoscopic-Assisted Sagittal Craniosynostosis Repair.

World Neurosurg 2022 Jun 11. Epub 2022 Jun 11.

Departamento de Neurocirugía, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.

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[A case of Pfeiffer syndrome caused by FGFR2 gene variation].

X R Zhuang H S Zhao

Zhonghua Yan Ke Za Zhi 2022 Jun;58(6):453-456

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical university, Beijing Institute of Ophthalmology, Beijing Key Laboratory of Ophthalmology Visual Sciences, Beijing 100730,China.

A 29-month-old male child with FGFR2 heterozygous missense mutation at birth was diagnosed as Pfeiffer syndrome. He was treating for binocular exophthalmos and exposed keratitis in Beijing Tongren Hospital Affiliated to Capital Medical University. The child had skull fusion (clover head), obvious exophthalmos, deformity of fingers and toes, ankylosis of elbow joint or bony fusion, accompanied by neurological complications and growth retardation; FGFR2 (NM_001144916) gene c. Read More

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Mechanical loading of cranial joints minimizes the craniofacial phenotype in Crouzon syndrome.

Sci Rep 2022 Jun 11;12(1):9693. Epub 2022 Jun 11.

Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

Children with syndromic forms of craniosynostosis undergo a plethora of surgical interventions to resolve the clinical features caused by the premature fusion of cranial sutures. While surgical correction is reliable, the need for repeated rounds of invasive treatment puts a heavy burden on the child and their family. This study explores a non-surgical alternative using mechanical loading of the cranial joints to prevent or delay craniofacial phenotypes associated with Crouzon syndrome. Read More

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[The Apert Foot: Anatomical Changes, Classification, Thoughts on surgical Treatment].

Handchir Mikrochir Plast Chir 2022 Jun 10;54(3):197-204. Epub 2022 Jun 10.

Salzkammergut Klinikum Bad Ischl, Abteilung für Unfallchirurgie.

Diagnosis and therapy of the Apert foot are scarcely described in extant literature. This article describes anatomical changes observed in 30 Apert feet. By analysis of X-rays and computed scans 5 types of bony Apert foot malformations were identified. Read More

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[Developments in the Diagnosis and Therapeutic Strategy of the Apert Hand].

Handchir Mikrochir Plast Chir 2022 Jun 10;54(3):187-196. Epub 2022 Jun 10.

Medizinische Universität Innsbruck Universitätsklinik für Plastische und Wiederherstellungsschirurgie.

The necessity for early surgical correction of Apert hands for the overall child development has been highlighted repeatedly in older literature. Nevertheless, uncertainties regarding the time and the scale of the initial surgical treatment still remain. While in former times there were no regular follow-ups after the syndactyly release, we now know that during growth bony changes will develop in the Apert hand requiring regular check-ups and, in some cases, revision surgeries. Read More

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A Computational Framework to Predict Calvarial Growth: Optimising Management of Sagittal Craniosynostosis.

Front Bioeng Biotechnol 2022 24;10:913190. Epub 2022 May 24.

Department of Mechanical Engineering, University College London, London, United Kingdom.

The neonate skull consists of several bony plates, connected by fibrous soft tissue called sutures. Premature fusion of sutures is a medical condition known as craniosynostosis. Sagittal synostosis, caused by premature fusion of the sagittal suture, is the most common form of this condition. Read More

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Optic Nerve Atrophy in Syndromic Craniosynostosis.

Plast Reconstr Surg 2022 Jun 8. Epub 2022 Jun 8.

Department of Clinical Research, Medical City Dallas Hospital, Dallas, TX.

Background: Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have greater impacts on vision than development, this review sought to ascertain the prevalence of optic nerve atrophy in syndromic craniosynostosis and to look for potential predictive factors.

Methods: A retrospective chart review of all children with syndromic craniosynostosis treated at a single center. Read More

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"Ten Years of Posterior Cranial Vault Expansion via Distraction Osteogenesis: An Update and Critical Evaluation".

Plast Reconstr Surg 2022 Jun 8. Epub 2022 Jun 8.

Division of Plastic and Reconstructive Surgery, The Children's Hospital of Philadelphia.

Purpose: The goal of this study was to describe the 10-year evolution of our surgical technique and institutional perioperative outcomes using posterior vault distraction osteogenesis (PVDO) in patients with syndromic and multi-suture craniosynostosis.

Methods: We performed a retrospective cohort study of patients who underwent PVDO for treatment of syndromic and multi-suture craniosynostosis at a single institution over a 10-year period. Demographic data, perioperative outcomes, distraction patterns, and complications were analyzed. Read More

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Rising ownership of brachycephalic dogs: what can we do to intervene?

Mark J Farnworth

Vet Rec 2022 Jun;190(11):459-461

Department of Animal Health, Behaviour and Welfare, Harper Adams University, Newport, UK.

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Genetic Interaction of and Shapes Postnatal Craniofacial Bone.

J Dev Biol 2022 May 11;10(2). Epub 2022 May 11.

Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS 66160, USA.

Ciliopathies are genetic syndromes that link skeletal dysplasias to the dysfunction of primary cilia. Primary cilia are sensory organelles synthesized by intraflagellar transport (IFT)-A and B complexes, which traffic protein cargo along a microtubular core. We have reported that the deletion of the IFT-A gene, , together with a null allele of its paralog, causes a small skeleton with a small mandible or micrognathia in juvenile mice. Read More

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Global Epidemiology of Craniosynostosis: A Systematic Review and Meta-Analysis.

World Neurosurg 2022 May 27. Epub 2022 May 27.

Department of Neurological Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, USA. Electronic address:

Objective: Craniosynostosis leads to craniofacial deformity and may result in raised intracranial pressure, neurocognitive deficits, and psychosocial issues if left untreated. The global epidemiology of craniosynostosis is unknown. We conducted a meta-analysis to estimate global birth prevalence. Read More

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Tranexamic Acid and Its Potential Anti-Inflammatory Effect: A Systematic Review.

Semin Thromb Hemost 2022 May 30. Epub 2022 May 30.

Department of Clinical Medicine, Health, Aarhus University, Aarhus C, Denmark.

Tranexamic acid (TXA) is an antifibrinolytic drug primarily used for reducing blood loss in patients with major bleedings. Animal and cell studies have shown that TXA might modulate the inflammatory response by either enhancing or inhibiting cytokine levels. Furthermore, recent human studies have found altered inflammatory biomarkers in patients receiving TXA when compared with patients who did not receive TXA. Read More

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Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.

Genes (Basel) 2022 May 3;13(5). Epub 2022 May 3.

Department of Pediatrics, University of California Davis, Sacramento, CA 95616, USA.

Craniosynostosis (CS) is a major birth defect in which one or more skull sutures fuse prematurely. We previously performed a genome-wide association study (GWAS) for sagittal non-syndromic CS (sNCS), identifying associations downstream from on 20p12.3 and intronic to on 7p14. Read More

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Stereophotogrammetry can feasibly assess 'physiological' longitudinal three-dimensional head development of very preterm infants from birth to term.

Sci Rep 2022 May 27;12(1):8940. Epub 2022 May 27.

Department of Orthodontics, University Medical Centre, Robert-Koch-Straße 40, 37075, Göttingen, Germany.

Head development is a surrogate for brain development in infants and is related to neurocognitive outcome. There is only limited knowledge on early extra-uterine head shape and size assessment in very preterm infants. Here, 26 very preterm infants with a mean gestational age of 29. Read More

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Establishing Standards of Care in Craniosynostosis: Results from a Survey of ERN CRANIO Member Institutions.

World Neurosurg 2022 May 25. Epub 2022 May 25.

Department of Neurosurgery, Great Ormond Street Hospital, London, United Kingdom; Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

Background: European Reference Networks (ERNs) are networks involving hospitals with particular expertise in rare conditions. ERN-CRANIO focuses on rare disorders of the skull and face including craniosynostosis.

Methods: We undertook a pilot study in the form of an electronic survey to understand current practice in craniosynostosis management across ERN-CRANIO, which at the time consisted of 29 member institutions across 11 countries. Read More

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Perianesthetic mortality in English Bulldogs: a retrospective analysis in 2010 - 2017.

BMC Vet Res 2022 May 25;18(1):198. Epub 2022 May 25.

Department of Molecular and Biomedical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, USA.

Background: Many veterinarians consider English Bulldogs to have a greater perianesthetic mortality risk. The aims of this study were to 1) determine total and anesthesia-related, perianesthetic mortality (PAM) rates in English Bulldogs (EB), 2) identify potential risk factors associated with mortality in EB, and 3) determine the difference in the perianesthetic mortality rates between EB, other-brachycephalic breeds (OB), and non-brachycephalic breeds (NB). Records from EB that were anesthetized between 2010 and 2017, were investigated. Read More

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Update in Management of Craniosynostosis.

Plast Reconstr Surg 2022 06 25;149(6):1209e-1223e. Epub 2022 May 25.

From Texas Children's Hospital and Baylor College of Medicine.

Learning Objectives: After studying this article, the participant should be able to: 1. Understand the craniofacial dysmorphology of craniosynostosis, and the variation of each type. 2. Read More

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The Simultaneous Use of Spring-Mediated Cranioplasty and Distraction Osteogenesis as a Safe Modality for Multi-Suture Craniosynostosis.

J Craniofac Surg 2022 May 25. Epub 2022 May 25.

Division of Plastic Surgery, Department of Surgery, School of Medicine, University of Mississippi Medical Center, Jackson, MS.

Abstract: Craniosynostosis caused by premature fusion of the cranial sutures most commonly involves a single suture. Less commonly, multiple sutures may fuse prematurely resulting in complex craniosynostosis. The authors present 1 case of a patient with unilateral sagittal and unilateral lambdoid craniosynostosis treated safely simultaneous with spring-mediated cranioplasty and distraction osteogenesis. Read More

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[Clinical and genetic analysis of two rare male patients with Rett syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 May;39(5):488-493

Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China.

Objective: To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome.

Methods: Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1's mother to detect the allelic expression difference of the MECP2 gene. Read More

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Squamosal Suture Synostosis: An Under-Recognized Phenomenon.

Cleft Palate Craniofac J 2022 May 20:10556656221100675. Epub 2022 May 20.

6595University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

Introduction: The squamosal suture (SQS) joins the temporal to the parietal bones bilaterally and is a poorly described site of craniosynostosis. SQS fusion is thought to occur as late as the fourth decade of life and beyond; however, we have incidentally noted its presence among our pediatric patients and hypothesize that it may occur earlier in life and more frequently than previously believed.

Methods: A retrospective review of imaging performed on pediatric patients was completed to identify patients with SQS synostosis. Read More

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