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Craniosynostosis

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https://www.readbyqxmd.com/read/28217872/craniosynostosis-delayed-closure-of-the-fontanelle-anal-genitourinary-and-skin-abnormalities-cdags-syndrome-first-report-in-a-mexican-patient-and-review-of-the-literature
#1
Rodrigo Pastrana-Ayala, Gretty L Peña-Castro, Adriana M Valencia-Herrera, Carlos A Mena-Cedillos, Sonia Toussaint-Caire, Yumiko I Akaki-Carreño, Constanza García-Delgado, Veronica F Morán-Barroso, Mirna Toledo-Bahena
INTRODUCTION: Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal recessive entity with only 10 cases reported; no associated gene has been identified so far. CASE REPORT: The proband is a 2-year-old Mexican female with brachycephaly, cleft palate, anal malformation with rectovestibular fistula, and clinodactyly of the third toe overlapping the second...
February 19, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28217040/multi-species-ontologies-of-the-craniofacial-musculoskeletal-system
#2
Jose L V Mejino, Landon T Detwiler, Timothy C Cox, James F Brinkley
We created the Ontology of Craniofacial Development and Malformation (OCDM) [1] to provide a unifying framework for organizing and integrating craniofacial data ranging from genes to clinical phenotypes from multi-species. Within this framework we focused on spatio-structural representation of anatomical entities related to craniofacial development and malformation, such as craniosynostosis and midface hypoplasia. Animal models are used to support human studies and so we built multi-species ontologies that would allow for cross-species correlation of anatomical information...
August 2016: CEUR Workshop Proceedings
https://www.readbyqxmd.com/read/28213626/effectiveness-of-screening-for-craniosynostosis-with-ultrasound-a-retrospective-review
#3
Kent M Hall, David A Besachio, Matthew D Moore, Adrian J Mora, William R Carter
BACKGROUND: Minimizing the ionizing radiation dose to children is fundamental to pediatric radiology. The most widely accepted imaging examination for evaluating craniosynostosis is computed tomography (CT) of the head, an examination that involves ionizing radiation. OBJECTIVE: To determine if sonography of the cranial sutures is an adequate screening examination for the diagnosis of craniosynostosis in patients with abnormal skull shape. MATERIALS AND METHODS: A retrospective review of all cranial suture ultrasound (US) examinations performed during the course of a 3-year period (July 2012 - September 2015) was undertaken...
February 17, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28207460/anthropometric-outcome-measures-in-patients-with-metopic-craniosynostosis
#4
Scott J Farber, Dennis C Nguyen, Gary B Skolnick, Sybill D Naidoo, Matthew D Smyth, Kamlesh B Patel
PURPOSE: Treatment of metopic craniosynostosis is performed by either fronto-orbital advancement (FOA) or endoscopic-assisted techniques. Interfrontal angle (IFA) is a validated measure of trigonocephaly, but requires a computed tomography scan. The most common direct measure to assess surgical outcome in patients with trigonocephaly is frontal width (ft-ft). The aim of this study is to determine if frontal width correlates with IFA and successful surgical correction 1 year after treatment...
February 15, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28197766/single-incision-endoscope-assisted-surgery-for-sagittal-craniosynostosis
#5
EDITORIAL
James Tait Goodrich
No abstract text is available yet for this article.
January 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28183836/low-dose-ct-for-craniosynostosis-preserving-diagnostic-benefit-with-substantial-radiation-dose-reduction
#6
J C Montoya, L J Eckel, D R DeLone, A L Kotsenas, F E Diehn, L Yu, A C Bartley, R E Carter, C H McCollough, J G Fletcher
BACKGROUND AND PURPOSE: Given the positive impact of early intervention for craniosynostosis, CT is often performed for evaluation but radiation dosage remains a concern. We evaluated the potential for substantial radiation dose reduction in pediatric patients with suspected craniosynostosis. MATERIALS AND METHODS: CT projection data from pediatric patients undergoing head CT for suspected craniosynostosis were archived. Simulated lower-dose CT images corresponding to 25%, 10%, and 2% of the applied dose were created using a validated method...
February 9, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28183556/blood-loss-and-transfusion-requirements-with-epsilon-aminocaproic-acid-use-during-cranial-vault-reconstruction-surgery
#7
Mark E Thompson, Charles Saadeh, Phillip Watkins, Laszlo Nagy, Joshua Demke
OBJECTIVE: To determine whether epsilon-aminocaproic acid (EACA) load of 50 mg∙kg(-1) before skin incision, and infusion of 25 mg∙kg(-1)∙h(-1) until skin closure during cranial vault reconstruction (CVR) were associated with decreased estimated blood loss and transfusion requirements. BACKGROUND: Antifibrinolytic medications decrease bleeding and transfusion requirements during cardiothoracic and orthopedic surgeries with high blood loss, but practical reductions in blood loss and transfusion requirements have not been consistently realized in children undergoing CVR...
February 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28179700/calvarial-remodelling-surgery-neurosurgical-experience-of-multidisciplinary-craniofacial-reconstruction
#8
Abdul Ghaffar, Zahid Hussain, Shahzad Ahmed Qasmi, Shahid Hameed Chaudhry
OBJECTIVE: To evaluate the safety, cosmetic and functional outcome of craniofacial reconstruction surgery for primary craniosynostosis and clefts. METHODS: This quasi-experimental study was conducted at the Combined Military Hospital, Rawalpindi, Pakistan, from June 2011 to December 2014, and comprised paediatric patients undergoing calvarial reconstructive procedures. Fronto-orbital advancement and reconstruction, total calvarial remodelling and box flap reconstruction techniques were used...
December 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28178101/iatrogenic-intradiploic-epidermoid-cyst-following-strip-craniectomy-for-sagittal-craniosynostosis
#9
Michael T Friel, Joaquin Hidalgo, J Mason Shiflett
INTRODUCTION: The increased incidence and success of strip craniectomy with postoperative helmet therapy in the treatment of sagittal craniosynostosis has been documented by multiple centers throughout the country and world. The authors report a child with a postoperative implantation intradiploic epidermoid cyst following a strip craniectomy, a complication, that to our knowledge, has not been reported. METHODS: This clinical report involves a 3-year-old boy with a scaphocephalic appearance who was transferred to our center following an interstate adoption...
February 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28175504/310%C3%A2-predictors-of-preoperative-developmental-delay-in-nonsyndromic-sagittal-craniosynostosis
#10
Eisha Christian, Thomas Imahiyerobo, Alexis Johns, Pedro Sanchez, Mark D Krieger, J Gordon McComb, Mark Urata
No abstract text is available yet for this article.
August 1, 2016: Neurosurgery
https://www.readbyqxmd.com/read/28160402/genetic-advances-in-craniosynostosis
#11
Wanda Lattanzi, Marta Barba, Lorena Di Pietro, Simeon A Boyadjiev
Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live births. In most cases, it occurs as an isolated congenital anomaly, that is, nonsyndromic craniosynostosis (NCS), the genetic, and environmental causes of which remain largely unknown. Recent data suggest that, at least some of the midline NCS cases may be explained by two loci inheritance. In approximately 25-30% of patients, craniosynostosis presents as a feature of a genetic syndrome due to chromosomal defects or mutations in genes within interconnected signaling pathways...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28156217/virtual-surgical-planning-and-3d-printing-in-repeat-calvarial-vault-reconstruction-for-craniosynostosis-technical-note
#12
Melissa LoPresti, Bradley Daniels, Edward P Buchanan, Laura Monson, Sandi Lam
Repeat surgery for restenosis after initial nonsyndromic craniosynostosis intervention is sometimes needed. Calvarial vault reconstruction through a healed surgical bed adds a level of intraoperative complexity and may benefit from preoperative and intraoperative definitions of biometric and aesthetic norms. Computer-assisted design and manufacturing using 3D imaging allows the precise formulation of operative plans in anticipation of surgical intervention. 3D printing turns virtual plans into anatomical replicas, templates, or customized implants by using a variety of materials...
February 3, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28156213/structural-brain-differences-in-school-age-children-with-and-without-single-suture-craniosynostosis
#13
Kristina Aldridge, Brent R Collett, Erin R Wallace, Craig Birgfeld, Jordan R Austin, Regina Yeh, Madison Feil, Kathleen A Kapp-Simon, Elizabeth H Aylward, Michael L Cunningham, Matthew L Speltz
OBJECTIVE Single-suture craniosynostosis (SSC), the premature fusion of a cranial suture, is characterized by dysmorphology of the craniofacial skeleton. Evidence to suggest that children with SSC are at an elevated risk of mild to moderate developmental delays and neurocognitive deficits is mounting, but the associations among premature suture fusion, neuroanatomy, and neurocognition are unexplained. The goals of this study were to determine 1) whether differences in the brain are present in young children with the 2 most common forms of SSC (sagittal and metopic) several years following surgical correction, and 2) whether the pattern of differences varies by affected suture (sagittal or metopic)...
February 3, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28145932/a-surgical-technique-for-management-of-the-metopic-suture-in-syndromic-craniosynostosis
#14
Jose Rolando Prada-Madrid, Lina Patricia Franco-Chaparro, Miguel Garcia-Wenninger, Tatiana Palomino-Consuegra, Nora Stanford, Diego Alejandro Castañeda-Hernández
OBJECTIVES: The objective is to describe a new surgical procedure developed in the San Jose Pediatric University Hospital for the management of syndromic synostosis of the metopic suture in a patient clinically diagnosed with Saethre-Chotzen syndrome. METHODS: The diagnosis of Saethre-Chotzen syndrome, bilateral coronal sutures, and metopic suture synostoses was made through photographic, anthropometric, exophthalmometric, and computed tomography analysis. The keel-like frontal bone deformity was corrected following resection using a fusiform osteotomy, remodelling was obtained by milling the edges, and the bony fragments were repositioned and fixed on the posterior wall of the frontal bone...
January 31, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28141652/tracheal-cartilaginous-sleeve-in-syndromic-craniosynostosis-an-underrecognized-source-of-significant-morbidity-and-mortality
#15
Brent B Pickrell, Jesse D Meaike, Karina T Cañadas, Binoy M Chandy, Edward P Buchanan
Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Patients with syndromic craniosynostosis who underwent direct bronchoscopy and laryngoscopy were evaluated retrospectively by pediatric otolaryngologists for the presence of TCS and associated anomalies...
January 30, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28135115/molecular-analysis-of-ephrin-a4-and-ephrin-b1-in-a-rabbit-model-of-craniosynostosis-likely-exclusion-as-the-loci-of-origin
#16
Gwen M Taylor, Gregory M Cooper, Joseph E Losee, Mark P Mooney, James Gilbert
Craniosynostosis (CS) has a prevalence of approximately 1 in every 2000 live births and is characterized by the premature fusion of one or more cranial sutures. Failure to maintain the cell lineage boundary at the coronal suture is thought to be involved in the pathology of some forms of CS. The Ephrin family of receptor tyrosine kinases consists of membrane-bound receptors and ligands that control cell patterning and the formation of developmental boundaries. Mutations in the ephrin A4 (EFNA4) and ephrin B1 (EFNB1) ligands have been linked to nonsyndromic CS and craniofrontonasal syndrome, respectively, in patient samples...
January 30, 2017: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/28134637/experiences-in-performing-posterior-calvarial-distraction
#17
Kevin McMillan, Mark Lloyd, Martin Evans, Nicholas White, Hiroshi Nishikawa, Desiderio Rodrigues, Melanie Sharp, Pete Noons, Guirish Solanki, Stephen Dover
The use of posterior calvarial distraction (PCD) for the management of craniosynostosis is well recognized. The advantages of using this technique include increased cranial volume, decreased intracranial pressure, relief of posterior fossa crowding, improved cerebrospinal fluid (CSF) circulation at the cranio-cervical junction with cessation, and possible resolution of syrinx.The authors retrospectively review their first 50 patients who have undergone PCD under the senior author's care in our unit.The demographics, diagnoses, intraoperative approach with techniques in distractor placement and outcomes of each patient were obtained through an electronic craniofacial database and written patient records...
January 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28133641/unilateral-frontosphenoid-craniosynostosis-case-report-and-a-review-of-the-literature
#18
Walid Radwan, Brandon P Lucke Wold, Aaron Mason, Abdul Tarabishy, Cesar A Serrano
Plagiocephaly is a common condition that affects infants. It can be broadly grouped into positional and non positional plagiocephaly Positional plagiocephaly frequently resolves without intervention. Non positional plagiocephaly resulting from craniosynostosis often requires surgical intervention. In this case report, we present a rare case of unilateral frontosphenoid craniosynostosis. We discuss the appropriate diagnostic workup, the available treatment options, and patient follow-up over time. Furthermore, we provide a detailed review of the literature discussing treatment options for aesthetic appearance as the child ages...
January 2017: Neurology (E-Cronicon)
https://www.readbyqxmd.com/read/28129408/contribution-of-fgfr1-variants-to-craniofacial-variations-in-east-asians
#19
Mohamed Adel, Tetsutaro Yamaguchi, Daisuke Tomita, Takatoshi Nakawaki, Yong-Il Kim, Yu Hikita, Shugo Haga, Masahiro Takahashi, Mohamed A Nadim, Akira Kawaguchi, Mutsumi Isa, Walid H El-Kenany, Abbadi A El-Kadi, Soo-Byung Park, Hajime Ishida, Koutaro Maki, Ryosuke Kimura
FGFR1 plays an important role in the development of the nervous system as well as the regulation of the skeletal development and bone homeostasis. Mutations in FGFR1 genes affect skull development, specifically suture and synchondrosis, resulting in craniosynostosis and facial abnormalities. We examined subjects with normal skull morphology for genetic polymorphisms that might be associated with normal craniofacial variations. Genomic DNA was obtained from 216 Japanese and 227 Korean subjects. Four FGFR1 SNPs, namely, rs881301, rs6996321, rs4647905, and rs13317, were genotyped...
2017: PloS One
https://www.readbyqxmd.com/read/28128636/-black-bone-mri-a-novel-imaging-technique-for-3d-printing
#20
Karen A Eley, Stephen R Watt-Smith, Stephen J Golding
OBJECTIVES: Three-dimensionally printed anatomical models are rapidly becoming an integral part of pre-operative planning of complex surgical cases. We have previously reported the "Black Bone" MRI technique as a non-ionising alternative to CT. Segmentation of bone becomes possible by minimising soft tissue contrast to enhance the bone-soft tissue boundary. The objectives of this study were to ascertain the potential of utilising this technique to produce 3D printed models. METHODS: "Black Bone" MRI acquired from adult volunteers and infants with craniosynostosis were 3D rendered and 3D printed...
January 27, 2017: Dento Maxillo Facial Radiology
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