6,971 results match your criteria Craniosynostosis


Two novel variants in the gene identified in cases with craniosynostosis.

Appl Clin Genet 2019 12;12:19-25. Epub 2019 Feb 12.

Choremio Research Laboratory, Department of Medical Genetics, Faculty of Medicine, National and Kapodistrian University of Athens, Athens, Greece,

Craniosynostosis (CS) is a condition where one or more of the cranial sutures fuse prematurely. It affects almost 1/2,000 newborns, and includes both syndromic and non-syndromic cases. To date, variants in over 70 different genes have been associated with the expression of CS. Read More

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http://dx.doi.org/10.2147/TACG.S190855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385741PMC
February 2019

Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation.

Authors:
Evren Gumus

Eur J Med Genet 2019 Mar 8. Epub 2019 Mar 8.

Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, 63000, Turkey. Electronic address:

Xia-Gibbs syndrome (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by mental retardation, developmental delay, speech delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring. Since the first description in 2014, fewer than 50 patients with Xia-Gibbs syndrome have been noticed in the literature. We describe here 2 years 2 months old girl with developmental delay, brain anomalies, laryngomalacia and craniosynostosis. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.03.001DOI Listing
March 2019
1 Read

Absorbable sutures for the achievement of stable osteosynthesis in surgery for craniosynostosis.

Neurol Neurochir Pol 2019 Mar 11. Epub 2019 Mar 11.

Department of Pediatric Surgery, Division of Pediatric Neurosurgery, Medical Faculty of Comenius University in Bratislava and National Institute of Children's Diseases, Slovakia.

Aim Of The Study: The goal of the present study was to analyse the exclusive use of absorbable suture material (Vicryl) in the fixation of transposed bone segments in cranial vault reshaping without modification of the osteotomy design.

Clinical Rationale For The Study: In the surgical correction of craniosynostosis, bone fixation using osteosynthesis is a key step. Absorbable osteosynthesis is a widespread tool in cranial vault remodelling, but only a limited number of studies have described the use of absorbable sutures in the treatment of patients with craniosynostosis. Read More

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http://dx.doi.org/10.5603/PJNNS.a2019.0014DOI Listing
March 2019
1 Read

Unilateral Coronal Craniosynostosis in an Apert-Like Patient.

Plast Surg (Oakv) 2019 Feb 3;27(1):78-82. Epub 2018 Oct 3.

Department of Plastic and Reconstructive Surgery, Case Western Reserve University School of Medicine, Cleveland, OH, USA.

Background And Significance: Apert syndrome is a congenital disorder of patients who typically present with bilateral coronal craniosynostosis and varying degrees of complex syndactyly of the hands and feet, among other features. We describe a unique presentation of a rare Apert-like patient with unilateral coronal craniosynostosis and complex syndactyly of the hands and feet.

Case Report: A 2-year-old male patient presented to the craniofacial clinic with his mother due to a concerning head shape. Read More

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http://dx.doi.org/10.1177/2292550318800322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399773PMC
February 2019
1 Read

Syndromic Craniosynostosis.

Clin Plast Surg 2019 Apr;46(2):141-155

Section of Plastic and Reconstructive Surgery, Oral and Maxillofacial Surgery, Department of Surgery, Yale-New Haven Hospital, Yale University, 330 Cedar Street, Boardman Building, 3rd Floor, New Haven, CT 06511, USA. Electronic address:

Management strategies for syndromic craniosynostosis patients require multidisciplinary subspecialty teams to provide optimal care for complex reconstructive approaches. The most common craniosynostosis syndromes include Apert (FGFR2), Crouzon (FGFR2), Muenke (FGFR3), Pfeiffer (FGFR1 and FGFR2), and Saethre-Chotzen (TWIST). Bicoronal craniosynostosis (turribrachycephaly) is most commonly associated with syndromic craniosynostosis. Read More

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http://dx.doi.org/10.1016/j.cps.2018.11.009DOI Listing

Nonsyndromic Craniosynostosis.

Clin Plast Surg 2019 Apr 30;46(2):123-139. Epub 2019 Jan 30.

Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, 6701 Fannin Street, CC 610.00, Houston, TX 77030, USA. Electronic address:

Nonsyndromic craniosynostosis is significantly more common than syndromic craniosynostosis, affecting the sagittal, coronal, metopic, and lambdoid sutures in decreasing order of frequency. Nonsyndromic craniosynostosis is most frequently associated with only 1 fused suture, creating a predictable head shape. Repair of craniosynostosis is recommended to avoid potential neurodevelopmental delay. Read More

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http://dx.doi.org/10.1016/j.cps.2018.11.001DOI Listing
April 2019
2 Reads

Sagittal suture maturation: Morphological reorganization, relation to aging, and reliability as an age-at-death indicator.

Am J Phys Anthropol 2019 Mar 8. Epub 2019 Mar 8.

Department of Anatomy and Histology, Medical University of Sofia, Sofia, Bulgaria.

Objectives: The sagittal suture (SS) is assumed to be an initial site for the commencement of cranial suture closure as well as the most frequent spot of isolated craniosynostosis. The present study aimed to inspect the reorganization of the SS at the microlevel to assess the relation between its closure and aging and to establish whether it could be used as a reliable indicator in age-at-death prediction.

Materials And Methods: The SS was investigated in 68 dry contemporary adult male skulls of known age-at-death. Read More

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http://dx.doi.org/10.1002/ajpa.23810DOI Listing

Experience with resorbable sonic pins for the attachment of distraction devices in posterior cranial vault distraction operations.

Childs Nerv Syst 2019 Mar 8. Epub 2019 Mar 8.

Medical Research Center, Oulu University Hospital, Oulu, Finland.

Background: Distraction techniques are effective methods for the treatment of craniosynostoses when a significant gain of an intracranial volume is required. However, this technique raises some challenges at different stages of the treatment. While installing the distractors in patients with thin calvarial bone, there is a risk of dural damage from the titanium screws. Read More

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http://dx.doi.org/10.1007/s00381-019-04097-0DOI Listing
March 2019
1 Read

Why do metopic sutural synostoses angulate? The concept of nasion sutural complex and its implication on the management of hypotelorism-early results and proof of concept.

Childs Nerv Syst 2019 Mar 7. Epub 2019 Mar 7.

Division of Craniomaxillofacial surgery, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India.

Object: Angulation at the suture is a hallmark of metopic synostoses amongst all craniosynostoses. No other sutural synostoses demonstrate angulation at synostoses consistently. We look into the possible aetiology and the implication of the understanding in the treatment goals of trigonocephaly. Read More

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http://dx.doi.org/10.1007/s00381-019-04112-4DOI Listing

Piezosurgery in pediatric neurosurgery.

World Neurosurg 2019 Mar 1. Epub 2019 Mar 1.

Fondazione Policlinico Universitario A. Gemelli IRCCS, Neurochirurgia Pediatrica, Roma, Italia; Università Cattolica del Sacro Cuore, Istituto di Neurochirurgia, Roma, Italia.

Background: Piezosurgery (PS) gained an increasing diffusion in neurosurgery. In pediatric neurosurgery, the experience is limited to craniosynostosis surgery. The present study assesses PS in the pediatric population considering outcome and complications also in cranial and spinal procedures. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.02.103DOI Listing
March 2019
1 Read

Eruption of Maxillary Posterior Permanent Molars following Early Conventional Le Fort III Advancement and Early Le Fort III Distraction Procedures Compared to Late Surgical Intervention.

Plast Reconstr Surg 2019 Mar;143(3):565e-571e

New York, N.Y. From the Hansjorg Wyss Department of Plastic Surgery at New York University Langone Health.

Background: Le Fort III advancement and/or distraction involve osteotomies and dysjunction in the region of the maxillary tuberosity in proximity to the maxillary posterior tooth buds. The purpose of this study was to determine the effect of early conventional Le Fort III advancement and/or distraction on development and eruption of the maxillary posterior permanent molars.

Methods: A retrospective review of patients diagnosed with syndromic craniosynostosis, who underwent early Le Fort III or early midface distraction and late surgical intervention, was analyzed. Read More

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http://dx.doi.org/10.1097/PRS.0000000000005364DOI Listing
March 2019
2 Reads

Orthodontic-Orthopedic-Surgical Treatment of Syndromic Third Class: Proposal of a New Craniofacial Cephalometric Method.

J Craniofac Surg 2019 Feb 25. Epub 2019 Feb 25.

Department of Oral and Maxillofacial Sciences, Sapienza University of Rome, Rome, Italy.

The management of patients suffering from class III due to syndromic craniosynostosis requires a multidisciplinary team to prevent and correct the complex clinical features related to the syndrome. Among the main clinical features, the midface hypoplasia requires surgical advancement with a rigid external distraction device. The comparison of pre- and postdistraction lateral cephalometries is often difficult in these patients, because the craniofacial advancement mobilizes the landmarks routinely used in cephalometry. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005253DOI Listing
February 2019

Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.

Am J Med Genet A 2019 Apr 27;179(4):668-673. Epub 2019 Feb 27.

Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan.

In 2011, biallelic loss-of-function variants in the interleukin receptor 11 alpha gene IL11RA were found to be associated with a Crouzon-like craniosynostosis syndrome with associated dental anomalies (CRSDA). Since then, a total of 41 similar patients have been reported with IL11RA variants. We report two adult brothers diagnosed with Crouzon syndrome as children, in which the clinical diagnosis of CRSDA was made on reevaluation. Read More

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http://dx.doi.org/10.1002/ajmg.a.61070DOI Listing
April 2019
2 Reads
2.159 Impact Factor

National 30-Day Outcomes for Posterior Cranial Vault Distraction.

J Craniofac Surg 2019 Feb 16. Epub 2019 Feb 16.

Section of Plastic and Reconstructive Surgery, Department of Surgery, Yale University School of Medicine, New Haven, CT.

Background: Posterior vault distraction (PVD) can rapidly expand calvarial volume in infancy. Limited data exist regarding its perioperative and postoperative safety profile. This study sought to investigate the patient profile, outcomes, and safety of PVD using a national pediatric database. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005285DOI Listing
February 2019
1 Read

DeepSSM: A Deep Learning Framework for Statistical Shape Modeling from Raw Images.

Shape Med Imaging (2018) 2018 Sep 23;11167:244-257. Epub 2018 Nov 23.

Scientific Computing and Imaging Institute, University of Utah.

Statistical shape modeling is an important tool to characterize variation in anatomical morphology. Typical shapes of interest are measured using 3D imaging and a subsequent pipeline of registration, segmentation, and some extraction of shape features or projections onto some lower-dimensional shape space, which facilitates subsequent statistical analysis. Many methods for constructing compact shape representations have been proposed, but are often impractical due to the sequence of image preprocessing operations, which involve significant parameter tuning, manual delineation, and/or quality control by the users. Read More

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http://dx.doi.org/10.1007/978-3-030-04747-4_23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385885PMC
September 2018
1 Read

Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome.

Eur J Med Genet 2019 Feb 21. Epub 2019 Feb 21.

Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India; Department of Laboratory Medicine and Pathology, Rochester, MN, 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA. Electronic address:

Say-Meyer syndrome is a rare and clinically heterogeneous syndrome characterized by trigonocephaly, short stature, developmental delay and hypotelorism. Nine patients with this syndrome have been reported thus far although no causative gene has yet been identified. Here, we report two siblings with clinical phenotypes of Say-Meyer syndrome with moderate to severe intellectual disability and autism spectrum disorder. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183047
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http://dx.doi.org/10.1016/j.ejmg.2019.02.007DOI Listing
February 2019
5 Reads

The Role of Antifibrinolytics in Reducing Blood Loss During Craniofacial or Orthognathic Surgical Procedures: A Meta-Analysis.

J Oral Maxillofac Surg 2019 Jan 30. Epub 2019 Jan 30.

Associate Professor, Department of Plastic & Reconstructive Surgery, Johns Hopkins University, Baltimore, MD.

Purpose: Use of antifibrinolytic drugs in craniofacial and orthognathic surgery seems quite promising and has strong advocates. However, supporting evidence is controversial and limited by a small sample of individual studies. We sought to systematically review and meta-analyze the available data regarding the role of preoperative or intraoperative antifibrinolytic drugs (eg, tranexamic acid, aprotinin, or aminocaproic acid) in craniofacial and orthognathic surgery. Read More

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http://dx.doi.org/10.1016/j.joms.2019.01.032DOI Listing
January 2019

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.

Eur J Hum Genet 2019 Feb 22. Epub 2019 Feb 22.

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

Progressive dilatation of the thoracic aorta leads to thoracic aortic aneurysm (TAA), which is often asymptomatic but predisposes to lethal aortic dissections and ruptures. TAA is a common complication in patients with bicuspid aortic valve (BAV). Recently, rare loss-of-function SMAD6 variants were shown to contribute significantly to the genetic aetiology of BAV/TAA. Read More

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http://dx.doi.org/10.1038/s41431-019-0363-zDOI Listing
February 2019

"The Cognitive Profile of Children with Non-syndromic Craniosynostosis."

Plast Reconstr Surg 2019 Feb 11. Epub 2019 Feb 11.

Background: Long-term neuropsychological and cognitive outcomes in patients with non-syndromic craniosynostosis have proven difficult to evaluate objectively due to methodological problems with published studies based on their small and biased samples of patients, wide age ranges, and testing with unacceptable psychometric properties. This study evaluated full-scale intelligence quotient (FSIQ) and its subscales in a cohort with a small selection bias.

Methods: Patients (aged 7-16 years) born with non-syndromic craniosynostosis and surgically treated were tested using the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV). Read More

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http://dx.doi.org/10.1097/PRS.0000000000005515DOI Listing
February 2019
1 Read

Critical Growth Processes for the Midfacial Morphogenesis in the Early Prenatal Period.

Cleft Palate Craniofac J 2019 Feb 17:1055665619827189. Epub 2019 Feb 17.

1 Department of Plastic and Reconstructive Surgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Background:: Congenital midfacial hypoplasia often requires intensive treatments and is a typical condition for the Binder phenotype and syndromic craniosynostosis. The growth trait of the midfacial skeleton during the early fetal period has been assumed to be critical for such an anomaly. However, previous embryological studies using 2-dimensional analyses and specimens during the late fetal period have not been sufficient to reveal it. Read More

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http://dx.doi.org/10.1177/1055665619827189DOI Listing
February 2019
1 Read

Characterizing and Modeling Bone Formation during Mouse Calvarial Development.

Phys Rev Lett 2019 Feb;122(4):048103

Department of Mechanical Engineering, University College London, Torrington Place, London, WC1E 7JE, United Kingdom.

The newborn mammalian cranial vault consists of five flat bones that are joined together along their edges by soft fibrous tissues called sutures. Early fusion of these sutures leads to a medical condition known as craniosynostosis. The mechanobiology of normal and craniosynostotic skull growth is not well understood. Read More

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http://dx.doi.org/10.1103/PhysRevLett.122.048103DOI Listing
February 2019
1 Read

Infant Midnasal Stenosis: Reliability of Nasal Metrics.

AJNR Am J Neuroradiol 2019 Mar 14;40(3):562-567. Epub 2019 Feb 14.

Division of Pediatric Otolaryngology-Head and Neck Surgery (K.M.L., S.H.P., J.R.S.), University of Utah and Primary Children's Hospital, Salt Lake City, Utah

Background And Purpose: Midnasal stenosis is a poorly defined entity that may be a component of other conditions of nasal obstruction contributing to respiratory distress in infants. We sought to establish whether midnasal vault narrowing is a component of well-defined syndromes of nasal narrowing, such as bilateral choanal atresia and pyriform aperture stenosis, and to characterize the nasal anatomy of patients with syndromic craniosynostosis.

Materials And Methods: A convenience sample of patients with pyriform aperture stenosis, bilateral choanal atresia, and Apert and Crouzon syndromes with maxillofacial CT scans was identified. Read More

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http://dx.doi.org/10.3174/ajnr.A5980DOI Listing
March 2019
1 Read

Management of non-syndromic craniosynostoses in France in 2015: A national survey.

J Craniomaxillofac Surg 2019 Jan 30. Epub 2019 Jan 30.

Department of Plastic and Oral and Maxillofacial Surgery, Caen University Hospital, Avenue de la Côte-de-Nacre, 14000 Caen, France. Electronic address:

Purpose: Craniosynostoses are managed by surgical and anaesthetic teams in specialist centres. Despite the availability of international guidelines, the perioperative management of craniosynostoses remains highly variable between centres. The aim of our study was to describe the different protocols for the management of non-syndromic craniosynostoses in France in 2015. Read More

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http://dx.doi.org/10.1016/j.jcms.2019.01.028DOI Listing
January 2019
2 Reads

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Am J Med Genet A 2019 Apr 13;179(4):615-627. Epub 2019 Feb 13.

Clinical Genetics Service, Great Ormond Street Hospital, London, United Kingdom.

Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari-1 malformation, speech and language delay, and learning difficulties and/or behavioral problems. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis. Read More

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http://dx.doi.org/10.1002/ajmg.a.61073DOI Listing
April 2019
2 Reads

Signaling Mechanisms Underlying Genetic Pathophysiology of Craniosynostosis.

Authors:
Xiaowei Wu Yan Gu

Int J Biol Sci 2019 1;15(2):298-311. Epub 2019 Jan 1.

Department of Orthodontics, Peking University School and Hospital of Stomatology, No. 22 Zhongguancun Avenue South, Haidian District, Beijing, 100081, PR. China.

Craniosynostosis, is the premature fusion of one or more cranial sutures which is the second most common cranial facial anomalies. The premature cranial sutures leads to deformity of skull shape and restricts the growth of brain, which might elicit severe neurologic damage. Craniosynostosis exhibit close correlations with a varieties of syndromes. Read More

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http://dx.doi.org/10.7150/ijbs.29183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367540PMC
January 2019

Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.

Childs Nerv Syst 2019 Feb 11. Epub 2019 Feb 11.

Seattle Science Foundation, 550 17th Ave, James Tower, Suite 600, Seattle, WA, 98122, USA.

Introduction: Pfeiffer syndrome is a rare autosomal dominant inherited disorder associated with craniosynostosis, midfacial hypoplasia, and broad thumbs and toes. The syndrome has been divided into three clinical subtypes based on clinical findings.

Methods: This review will specifically examine the most severe type, Pfeiffer syndrome type 2, focusing on its genetics and molecular biology. Read More

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http://dx.doi.org/10.1007/s00381-019-04082-7DOI Listing
February 2019
2 Reads

Trigonocephaly: Case Report, Review of Literature and a Technical Note.

Open Access Maced J Med Sci 2019 Jan 10;7(1):117-120. Epub 2019 Jan 10.

Special Hospital for Orthopedic Surgery and Traumatology "St. Erazmo", Ohrid, Republic of Macedonia.

Background: Premature fusion of the metopic suture results in a type of craniosynostosis known as trigonocephaly. The treatment of trigonocephaly is surgical and is likely to remain so. Surgical methods and techniques for correction of craniosynostosis-related skull deformities have evolved, and a single best procedure is yet to be presented. Read More

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http://dx.doi.org/10.3889/oamjms.2019.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352482PMC
January 2019
3 Reads

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Genet Med 2019 Feb 11. Epub 2019 Feb 11.

GeneDx, Gaithersburg, MD, USA.

Purpose: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients.

Methods: Patients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information. Read More

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http://dx.doi.org/10.1038/s41436-019-0454-9DOI Listing
February 2019
11 Reads

Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome.

Biomed Rep 2019 Feb 3;10(2):107-112. Epub 2019 Jan 3.

National Key Laboratory of Gene Technology, Institute of Biotechnology, Cau Giay, Ha Noi 10000, Vietnam.

Crouzon syndrome is a rare autosomal dominant genetic disorder, which causes the premature fusion of the cranial suture. Fibroblast growth factor receptor 2 (FGFR2) mutations are well-known causatives of Crouzon syndrome. The current study aimed to assess the gene associated with Crouzon syndrome in a Vietnamese family of three generations and to characterize their associated clinical features. Read More

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http://dx.doi.org/10.3892/br.2019.1181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350211PMC
February 2019
9 Reads

Pediatric Sleep Surgery: Skeletal Procedures.

Authors:
Cory M Resnick

Atlas Oral Maxillofac Surg Clin North Am 2019 Mar 20;27(1):67-75. Epub 2018 Dec 20.

Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard School of Dental Medicine, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cxom.2018.11.001DOI Listing
March 2019
2 Reads

Trigonocephaly: Long-term results after surgical correction of metopic suture synostosis.

Adv Clin Exp Med 2019 Jan 30. Epub 2019 Jan 30.

Department of Plastic Surgery, Wroclaw Medical University, Polanica-Zdrój, Poland.

Background: Premature closure and ossification of the metopic suture results in a triangular head shape called trigonocephaly and is characterized by a wedge-shaped forehead and frontotemporal narrowing. Untreated craniosynostosis may lead to increased intracranial pressure (ICP) and, thereby, impaired neurodevelopment. Over the last decades, its incidence has been increasing, currently making it the 2nd most common type of isolated craniosynostosis. Read More

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http://dx.doi.org/10.17219/acem/90763DOI Listing
January 2019

Predictors of perioperative complications in paediatric cranial vault reconstruction surgery: a multicentre observational study from the Pediatric Craniofacial Collaborative Group.

Br J Anaesth 2019 Feb 19;122(2):215-223. Epub 2018 Dec 19.

Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Anesthesiology and Critical Care, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Background: The current incidence of major complications in paediatric craniofacial surgery in North America has not been accurately defined. In this report, the Pediatric Craniofacial Collaborative Group evaluates the incidence and determines the independent predictors of major perioperative complications using a multicentre database.

Methods: The Pediatric Craniofacial Surgery Perioperative Registry was queried for subjects undergoing complex cranial vault reconstruction surgery over a 5-year period. Read More

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http://dx.doi.org/10.1016/j.bja.2018.10.061DOI Listing
February 2019
1 Read

Impact of surgery timing for craniosynostosis on neurodevelopmental outcomes: a systematic review.

J Neurosurg Pediatr 2019 Jan 25:1-13. Epub 2019 Jan 25.

2University of Leeds, Leeds, United Kingdom.

OBJECTIVEThere are currently no guidelines for the optimum age for surgical treatment of craniosynostosis. This systematic review summarizes and assesses evidence on whether there is an optimal age for surgery in terms of neurodevelopmental outcomes.METHODSThe databases MEDLINE, PsycINFO, CINAHL, Embase + Embase Classic, and Web of Science were searched between October and November 2016 and searches were repeated in July 2017. Read More

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http://dx.doi.org/10.3171/2018.10.PEDS18536DOI Listing
January 2019
3 Reads

The turricephaly index: A validated method for recording turricephaly and its natural history in Apert syndrome.

J Craniomaxillofac Surg 2019 Mar 25;47(3):414-419. Epub 2018 Dec 25.

Department of Pediatric Neurosurgery, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK. Electronic address:

Introduction: We present the CT scan-derived turricephaly index (TI) as a quotient of the maximal occipito-frontal length of the skull to the distance from the centre of the sella to the highest point on the vertex as a validated tool for assessing turricephaly and evaluating surgical techniques aimed at reducing it.

Materials And Methods: Measurements taken from CTs of non-operated children with Apert syndrome and age-matched controls were analysed using Centricity PACS system (from the lateral scout image) and the thick-sliced Osirix tool. CTs from non-operated children with Apert syndrome were used to investigate the natural history of their turricephaly both as a group and individually. Read More

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http://dx.doi.org/10.1016/j.jcms.2018.12.007DOI Listing
March 2019
3 Reads

"Headache in operated isolated sagittal synostosis."

Plast Reconstr Surg 2019 Jan 21. Epub 2019 Jan 21.

Background: This study investigates the relationship between headache and the occurrence of signs associated with intracranial hypertension (ICH) such as ophthalmic signs, restricted skull growth and a vertex bulge in children who were operated for sagittal synostosis.

Methods: A total of 94 patients (aged 6-18 years) with sagittal synostosis were asked to indicate the headache frequency. Based on their age at referral, the patients had undergone either a fronto-biparietal remodeling (FBR) or an extended strip craniotomy (ESC). Read More

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http://dx.doi.org/10.1097/PRS.0000000000005481DOI Listing
January 2019
1 Read

Fronto-Orbital Advancement: Description of Surgical Technique to Complement the Procedural Cognition Simulation in the Craniofacial Interactive Virtual Assistant-Professional Edition.

J Craniofac Surg 2019 Jan 19. Epub 2019 Jan 19.

Hansjörg Wyss Department of Plastic Surgery, New York University Langone Health, New York, NY.

The surgical treatment of nonsyndromic craniosynostosis is one of the most common procedures performed by craniofacial surgeons. However, for residents and fellows, the high degree of difficulty and complex anatomy may result in slow progress along a steep learning curve. This is particularly important in the context of contemporary academic practice, where work-hour limits and other factors restrict operative exposure and opportunities for trainees to learn. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005141DOI Listing
January 2019
2 Reads

Understanding the Learning Disabilities Linked to Sagittal Craniosynostosis.

J Craniofac Surg 2019 Jan 19. Epub 2019 Jan 19.

Department of Surgery, Section of Plastic Surgery, Yale Medical School.

Objective: The purpose of this study is to investigate further findings that corroborate similarities between corrected sagittal craniosynostosis and attention deficit hyperactivity disorder (ADHD). The ultimate aim is to understand whether treatment of ADHD was appropriate for patients with corrected craniosynostosis or whether different treatment and strategies were needed compared to patients with ADHD.

Methods: A total of 30 functional magnetic resonance imaging (fMRI) of 10 sagittal nonsyndromic craniosynostosis (sNSC), 10 ADHD-combined, and 10 control adolescents were studied. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005194DOI Listing
January 2019
18 Reads

Review of the Use of Stainless Wires in Craniosynostosis Surgery.

J Craniofac Surg 2019 Jan 17. Epub 2019 Jan 17.

Oxford Craniofacial Unit, John Radcliffe Hospital, Headington, Oxford, UK.

Background: Controversy exists as to the ideal form of bone fixation in craniosynostosis surgery with the use of resorbable plates predominating in most craniofacial units. However, the use of stainless steel wires has been the preferred fixation method at the Oxford Craniofacial Unit (OCU) since its establishment. Wires have the advantage of being malleable, inexpensive, and quick and easy to use. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005156DOI Listing
January 2019
2 Reads

Lack of association of cranial lacunae with intracranial hypertension in children with Crouzon syndrome and Apert syndrome: a 3D morphometric quantitative analysis.

Childs Nerv Syst 2019 Mar 19;35(3):501-507. Epub 2019 Jan 19.

Craniofacial Unit, Great Ormond Street Hospital, London, UK.

Purpose: Cranial lacunae (foci of attenuated calvarial bone) are CT equivalents of "copper beating" seen on plain skull radiographs in children with craniosynostosis. The qualitative presence of copper beating has not been found to be useful for the diagnosis of intracranial hypertension (IH) in these patients. 3D morphometric analysis (3DMA) allows a more systematic and quantitative assessment of calvarial attenuation. Read More

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http://dx.doi.org/10.1007/s00381-019-04059-6DOI Listing
March 2019
9 Reads

Impact of age at surgery on neurodevelopmental outcomes in sagittal synostosis.

J Neurosurg Pediatr 2019 Jan 18:1-8. Epub 2019 Jan 18.

2Neurosurgery, Leeds General Infirmary, Leeds, United Kingdom.

OBJECTIVEThe aim of this study was to ascertain whether age at surgery has an impact on later neurodevelopmental outcomes for children with sagittal synostosis (SS).METHODSThe developmental outcome data from patients who had surgery for SS and who attended their routine preoperative, 6-7 months postoperative, and 5-year-old developmental assessments (yielding general quotients [GQs]) (n = 50), 10-year-old IQ assessment (n = 54), and 15-year-old IQ assessment (n = 23) were examined, comparing whether they had surgery at < 7 months, 7 to < 12 months, or ≥ 12 months).RESULTSThere was no significant effect for age at surgery for GQ at 5 years of age, but there was a significant effect (p = 0. Read More

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http://dx.doi.org/10.3171/2018.8.PEDS18186DOI Listing
January 2019
3 Reads

[Untersuchung des Tränenfilms und histologische Untersuchung der Augenlider von Möpsen].

Tierarztl Prax Ausg K Kleintiere Heimtiere 2018 Dec 18;46(6):380-385. Epub 2019 Jan 18.

Objectives: To determine if qualitative tear film and histological changes of the eyelid margins in pugs compared to other brachycephalic dogs could be potential contributing factors to the high prevalence of corneal diseases in this breed.

Methods: Ophthalmic examin ation (including tear film break-up time [TFBUT] and meibometry) was undertaken on three groups (pugs with and without ophthalmologic abnormalities as well as on other brachycephalic breeds with history of ophthalmologic abnormalities). Histology of eyelid tissue obtained during medial canthoplasty was performed, using hematoxylin-eosin and oil-red-O-staining. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1677390
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http://dx.doi.org/10.1055/s-0038-1677390DOI Listing
December 2018
11 Reads

Clinical and genetic findings of two cases with Apert syndrome.

Bol Med Hosp Infant Mex 2019 ;76(1):44-48

Department of Medical Biology and Genetics, Akdeniz University Medical School, Antalya, Turkey.

Background: Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype.

Case Report: Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present. In both patients, a heterozygous missense mutation (c. Read More

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http://www.bmhim.com/files/bmhi_2019_1_44-48.pdf
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http://dx.doi.org/10.24875/BMHIM.18000053DOI Listing
January 2019
8 Reads

Virtual Surgical Planning Decreases Operative Time for Isolated Single Suture and Multi-suture Craniosynostosis Repair.

Plast Reconstr Surg Glob Open 2018 Dec 17;6(12):e2038. Epub 2018 Dec 17.

Hagey Laboratory for Pediatric Regenerative Medicine, Division of Plastic Surgery, Department of Surgery, School of Medicine, Stanford University, Stanford, Calif.

Background: Cranial vault reconstruction is a complex procedure due to the need for precise 3-dimensional outcomes. Traditionally, the process involves manual bending of calvarial bone and plates. With the advent of virtual surgical planning (VSP), this procedure can be streamlined. Read More

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http://Insights.ovid.com/crossref?an=01720096-900000000-9814
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http://dx.doi.org/10.1097/GOX.0000000000002038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326593PMC
December 2018
5 Reads

Variable phenotypic expression of Apert syndrome in monozygotic twins.

Clin Case Rep 2019 Jan 11;7(1):54-57. Epub 2018 Nov 11.

Department of Gynecology and Obstetrics CHRU de Nancy Nancy France.

Apert syndrome in monozygotic twins can lead to different phenotypic expression of the disease in the two fetuses. Apert syndrome can be associated with congenital left diaphragmatic hernia and cleft palate. Read More

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http://dx.doi.org/10.1002/ccr3.1915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333066PMC
January 2019
6 Reads

Nonsyndromic craniosynostosis: novel coding variants.

Pediatr Res 2019 Mar 14;85(4):463-468. Epub 2019 Jan 14.

Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Background: Craniosynostosis (CS), the premature fusion of one or more neurocranial sutures, is associated with approximately 200 syndromes; however, about 65-85% of patients present with no additional major birth defects.

Methods: We conducted targeted next-generation sequencing of 60 known syndromic and other candidate genes in patients with sagittal nonsyndromic CS (sNCS, n = 40) and coronal nonsyndromic CS (cNCS, n = 19).

Results: We identified 18 previously published and 5 novel pathogenic variants, including three de novo variants. Read More

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http://www.nature.com/articles/s41390-019-0274-2
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http://dx.doi.org/10.1038/s41390-019-0274-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398438PMC
March 2019
10 Reads

Non-syndromic craniosynostosis treated by frontal orbital advancement: A case report.

Med J Malaysia 2018 Dec;73(6):423-424

General Hospital Kuala Lumpur, Department of Plastic and Reconstructive Surgery, Kuala Lumpur, Malaysia.

Craniosynostosis is a premature pathologic fusion of one or more cranial vault sutures leading to abnormally-shaped skull. It can occur in isolated event (non-syndromic), or it can occur in conjunction with other anomalies in welldefined patterns (syndromic). The diagnosis rests on clinical examination and confirmation is generally on the computed tomography scan. Read More

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December 2018
8 Reads

Apert syndrome without craniosynostosis.

Childs Nerv Syst 2019 Mar 14;35(3):565-567. Epub 2019 Jan 14.

Hospital das Clínicas, School of Medicine, University of São Paulo, Street Eneas de Carvalho, 255, Pinheiros, São Paulo, Brazil.

Background: Apert syndrome is a rare form of syndromic craniosynostosis, also known as acrocephalosyndactyly, which is a disorder characterized by a unique set of craniofacial, hand, and foot abnormalities. Diagnosis is made through a genetic analysis, where the mutation of FGFR2, Ser252Trp, and Pro253Arg confirms the diagnosis.

Case Presentation: Although craniosynostosis is the most common characteristic in clinical presentation, we present an atypical case of a one-and-a-half-year-old girl with Apert syndrome confirmed by genetic testing but without craniosynostosis. Read More

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http://dx.doi.org/10.1007/s00381-019-04050-1DOI Listing
March 2019
4 Reads

Evaluation of Endoscopic Strip Craniectomy and Orthotic Therapy for Bilateral Coronal Craniosynostosis.

J Craniofac Surg 2019 Jan 10. Epub 2019 Jan 10.

Division of Plastic and Reconstructive Surgery, Washington University in St. Louis, St. Louis, MO.

Background: Bilateral coronal craniosynostosis is the premature fusion of both coronal sutures. Traditionally, this condition is treated by frontal-orbital advancement (FOA). Endoscopic strip craniectomy with cranial orthotic therapy, which has gained popularity in treating single suture craniosynostosis, has recently been adapted for the treatment of bicoronal synostosis. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005118DOI Listing
January 2019
1 Read

Short- and Long-Term Outcomes by Procedure Type for Nonsagittal Single-Suture Craniosynostosis.

J Craniofac Surg 2019 Jan 10. Epub 2019 Jan 10.

Section of Plastic Surgery, University of Michigan, Ann Arbor, MI.

Background: Minimally invasive approaches for the treatment of single-suture craniosynostosis are sometimes touted as equivalent to cranial vault reconstruction. While techniques for sagittal synostosis have been reviewed previously, evidence regarding open and less invasive surgical techniques for metopic, coronal, and lambdoid synostosis has yet to be reviewed.

Methods: Systematic searches were performed using Embase. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005129DOI Listing
January 2019
4 Reads