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Craniosynostosis

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https://www.readbyqxmd.com/read/29150894/unique-association-of-hypochondroplasia-with-craniosynostosis-and-cleft-palate-in-a-mexican-family
#1
Ariadna González-Del Angel, Alan Caro-Contreras, Miguel Angel Alcántara-Ortigoza, Sandra Ramos, Roberto Cruz-Alcívar, Paola Moyers-Pérez
Hypochondroplasia (HCH) is a skeletal dysplasia caused by an abnormal function of the fibroblast growth factor receptor 3. Although believed to be relatively common, its prevalence and phenotype are not well established owing to its clinical, radiological, and genetic heterogeneity. Here we report on a molecularly proven HCH family with an affected father and two children. The siblings (male and female) with HCH also had craniosynostosis and cleft palate, respectively. The present report supports the conclusion that the full clinical spectrum of HCH is not completely delineated...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29147600/osteoglophonic-dysplasia-phenotypic-and-radiological-clues
#2
Shwetha Kuthiroly, Dhanya Yesodharan, Aneesh Ghosh, Kenneth E White, Sheela Nampoothiri
Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-year-old girl with clinical and radiological features consistent with OD. She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29135736/use-of-acellular-dermal-matrix-in-craniosynostosis
#3
Anil Madaree
In craniofacial surgery, a wide spectrum of pathological conditions are usually treated. The aetiology of these could be congenital, traumatic, infective, post-tumor resection, postradiation, autoimmune, iatrogenic, or other miscellaneous conditions. The surgical approach for the procedures is usually via a coronal incision. In a large proportion of the patients, the frontal bone is removed to obtain intracranial access. The frontal bone is then replaced either in its original form or in a remodeled state. In congenital conditions the supraorbital bar and frontal bone is often also removed, remodeled, and replaced...
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29134781/clinical-and-molecular-genetic-characterization-of-a-male-patient-with-sensenbrenner-syndrome-cranioectodermal-dysplasia-and-biallelic-wdr35-mutations
#4
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
BACKGROUND: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29110198/surgical-management-of-craniosynostosis-in-the-setting-of-a%C3%A2-ventricular-shunt-a-case-series-and-treatment-algorithm
#5
Michael S Golinko, Danielle N Atwood, Eylem Ocal
PURPOSE: Cerebrospinal fluid diversion via ventricular shunt is a common treatment for hydrocephalus. Change in cranial morphology associated with a sutural fusion has been termed shunt-related or induced craniosynostosis (SRC) or craniocerebral disproportion (CCD). We present a series of patients with SRC who underwent cranial vault remodeling (CVR) and our treatment algorithm. METHODS: Thirteen patients were retrospectively reviewed who had SRC and CVR; 92% of patients had a ventriculoperitoneal (VP) shunt placed for largely intraventricular hemorrhage of prematurity (69% of patients) at a mean age of 2...
November 6, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29109840/identical-twins-with-crouzon-syndrome-eight-year-follow-up-genetic-considerations-and-operative-management
#6
Mark S Lloyd, Jeffrey G Trost, David Y Khechoyan, Larry H Hollier, Edward P Buchanan
A case report of monozygotic (MZ) twins with Crouzon syndrome was previously published to highlight variables in clinical presentation. The postnatal and epigenetic causes for this variation are not well understood. An 8-year follow-up discusses their pertinent clinic course with consideration of genetic and nongenetic variables. The phenotypic and symptomatic obstacles encountered since their initial assessment are reviewed, and the use of three-dimensional Medical Modeling (Golden, CO) as a preoperative planning strategy is addressed...
December 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/29100093/de-novo-mutations-in-slc25a24-cause-a-craniosynostosis-syndrome-with-hypertrichosis-progeroid-appearance-and-mitochondrial-dysfunction
#7
Nadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra Kilic, Anna F Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Holger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter M Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A Bacino, Penelope E Bonnen, Bernd Wollnik, Björn Fischer-Zirnsak, Uwe Kornak
Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29093661/syndromic-craniosynostosis-can-define-new-candidate-genes-for-suture-development-or-result-from-the-non-specifc-effects-of-pleiotropic-genes-rasopathies-and-chromatinopathies-as-examples
#8
REVIEW
Marcella Zollino, Serena Lattante, Daniela Orteschi, Silvia Frangella, Paolo N Doronzio, Ilaria Contaldo, Eugenio Mercuri, Giuseppe Marangi
Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of non-syndromic forms of craniosynostosis is largely unknown. In about 15-30% of cases craniosynostosis occurs in association with other physical anomalies and it is referred to as syndromic craniosynostosis. Syndromic forms of craniosynostosis arise from mutations in genes belonging to the Fibroblast Growth Factor Receptor (FGFR) family and the interconnected molecular pathways in most cases...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29084117/a-review-of-randomized-controlled-trials-in-cleft-and-craniofacial-surgery
#9
Jonathan M Bekisz, Elise Fryml, Roberto L Flores
This study presents a systematic review of randomized controlled trials (RCTs) in cleft and craniofacial surgery. All studies reporting on RCTs in cleft and craniofacial surgery were identified on PubMed using the search terms "cleft," "velopharyngeal insufficiency," "velopharyngeal dysfunction," "nasoalveolar molding," "gingivoperiosteoplasty," "Pierre Robin sequence," "craniofacial," "craniosynostosis," "craniofacial microsomia," "hemifacial microsomia," "hypertelorism," "Le Fort," "monobloc," "distraction osteogenesis," "Treacher Collins," and "Goldenhar...
October 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29084115/perioperative-blood-loss-and-transfusion-in-craniosynostosis-surgery
#10
Chang Park, Justin Wormald, Benjamin H Miranda, Juling Ong, Alison Hare, Simon Eccles
Craniosynostosis has an incidence of 1 in 2000 to 2500 live births and may be corrected through several methods including total calvarial remodeling and frontal orbital advancement remodeling. Blood loss during craniosynostosis surgery can be substantial, ranging from 20% to 500% of total circulating volume with a high associated risk of transfusion-related adverse events. The authors performed a retrospective analysis of all patients undergoing surgery for craniosynostosis at a tertiary pediatric craniofacial center with a focus on blood loss and subsequent transfusion...
October 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29068967/surgical-hypercorrection-of-trigonocephaly-evaluation-of-surgical-outcomes
#11
Katelyn G Bennett, Fan Liang, Kavitha Ranganathan, Karin M Muraszko, Christian J Vercler, Steven R Buchman
BACKGROUND: A lasting correction of trigonocephaly is difficult to achieve, as a durable correction requires significant expansion to overcome galeal restriction and soft tissue recoil of the scalp. High rates of relapse have been reported throughout the literature. The specific aim of this study was to determine if the senior author's method of "hypercorrection" decreases relapse and the need for subsequent revisional surgery. METHODS: Patients who underwent operative correction of metopic craniosynostosis between 1988 and 2011 were reviewed...
October 24, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29068936/craniosynostosis-surgery-does-hospital-case-volume-impact-outcomes-or-cost
#12
COMPARATIVE STUDY
Ari M Wes, Daniel Mazzaferro, Sanjay Naran, Edward Hopkins, Scott P Bartlett, Jesse A Taylor
BACKGROUND: The relationships between hospital/surgeon characteristics and operative outcomes and cost are being scrutinized increasingly. In patients with craniosynostosis specifically, the relationship between hospital volume and outcomes has yet to be characterized. METHODS: Subjects undergoing craniosynostosis surgery between 2004 and 2015 were identified in the Pediatric Health Information System. Outcomes were compared between two exposure groups, those undergoing treatment at a high-volume institution (>40 cases per year), and those undergoing treatment at a low-volume institution (40 cases per year)...
November 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29065051/relationship-of-a-metopic-ridge-and-anterior-cranial-volume-measured-by-a-noninvasive-laser-shape-digitizer
#13
Nathan D Applegren, Leslie A Shock, Kristina J Aldridge, Chase D Derrick, Tomoko Tanaka, C Lynette Baker, Arshad R Muzaffar
Cranial dysmorphology observed in patients with metopic craniosynostosis varies along a spectrum of severity including varying degrees of metopic ridging, bitemporal narrowing, and trigonocephaly. Management has been based upon the subjective clinical impression of presence and severity of trigonocephaly. Severity of cranial dysmorphology does not predict the occurrence or severity of associated abnormal neurodevelopment, as children with mild-to-moderate trigonocephaly may also experience developmental delays...
October 23, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29065043/defining-and-correcting-asymmetry-in-isolated-unilateral-frontosphenoidal-synostosis-differences-in-orbital-shape-facial-scoliosis-and-skullbase-twist-compared-to-unilateral-coronal-synostosis
#14
Gerhard S Mundinger, Rachel Skladman, Tara Wenger, Craig C Birgfeld, Joseph S Gruss, Amy Lee, Richard Ellenbogen, Richard A Hopper
INTRODUCTION: Isolated frontosphenoidal synostosis (FS) is a rare cause of fronto-orbital plagiocephaly that can be challenging to distinguish from isolated unicoronal synostosis (UC). The purpose of this paper is to analyze differences in fronto-orbital dysmorphology between the 2 conditions, to describe approaches for surgical correction, and to report surgical outcomes between FS and UC patients in a casecontrol fashion. METHODS: Patients treated for craniosynostosis over a 12-year period at our institution were retrospectively evaluated under institutional review board approval...
October 23, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29062650/corrected-cephalometric-analysis-to-determine-the-distance-and-vector-of-distraction-osteogenesis-for-syndromic-craniosynostosis
#15
Shinji Kobayashi, Toshihiko Fukawa, Takashi Hirakawa, Toshihiko Satake, Jiro Maegawa
BACKGROUND: The purpose of this study was to confirm the utility of a corrected cephalometric analysis to facilitate the planning of distraction osteogenesis with Le Fort III osteotomy for syndromic craniosynostosis. METHODS: This prospective study involved 4 male and 2 female patients (mean patient age, 8 years 9 months; age range, 4 years 6 months to 13 years 2 months) with Crouzon syndrome who were treated with Le Fort III maxillary distraction using our previously described system of analysis of a corrected cephalogram and who underwent clinical follow-up...
September 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29061457/3d-printed-craniosynostosis-model-a-new-simulation-surgical-tool
#16
Enrico Ghizoni, João Paulo Sant Ana Santos de Souza, Cassio Eduardo Raposo-Amaral, Rafael Denadai, Humberto Belém de Aquino, Cesar Augusto Raposo-Amaral, Andrei Fernandes Joaquim, Helder Tedeschi, Luís Fernando Bernardes, André L Jardini
BACKGROUND: Craniosynostosis is a complex disease once it involves deep anatomical perception, and a minor mistake during surgery can be fatal. The objective of this report is to present novel three-dimensional (3D)-printed polyamide craniosynostosis models that can improve the understanding and treatment complex pathologies. METHODS: The software InVesalius was used for segmentation of the anatomy image (from three patients between 6 and 9 months old). Afterward, the file was transferred to a Three-Dimensional Printing (3DP) system and, with the use of an infrared laser, slices of powder PA 2200 were consecutively added to build a polyamide model of cranial bone...
October 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29055645/bite-force-and-electromyography-evaluation-after-cranioplasty-in-patients-with-craniosynostosis
#17
Markus Martini, Valentin Wiedemeyer, Nils Heim, Martina Messing-Jünger, Sabine Linsen
OBJECTIVE: This long-term follow-up investigation aimed to assess masticatory muscle function in 15 patients with craniosynostosis with detachment of the temporal muscle during fronto-orbital advancement 6 years after cranioplasty compared with a non-operative stomatognathic healthy cohort in the same age group (n = 25). STUDY DESIGN: The follow-up assessment for the operated children occurred on average 5.2 ± 1.7 years after surgery at the age of 7 ± 1...
September 21, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29053644/dental-approach-for-apert-syndrome-in-children-a-systematic-review
#18
A-S López-Estudillo, M-A Rosales-Bérber, S Ruiz-Rodríguez, A Pozos-Guillén, M-Á Noyola-Frías, A Garrocho-Rangel
BACKGROUND: Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2. It is characterized by three specific clinical features: brachycephalic skull; midface hypoplasia, and limb abnormalities (syndactyly of hands and feet). The disorder exhibits variable presentations in bones, brain, skin, internal organs, and in the oral/maxillofacial region. The aim of the present paper was to show the main results from a systematic review of AS...
November 1, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/29053226/cover-image-volume-173a-number-11-november-2017
#19
Cristina M Justice, Jinoh Kim, Sun-Don Kim, Kyunhgho Kim, Garima Yagnik, Araceli Cuellar, Blake Carrington, Chung-Ling Lu, Raman Sood, Simeon A Boyadjiev, Alexander F Wilson
The cover image, by Cristina M. Justice et al., is based on the Original Article A Variant Associated with Sagittal Nonsydromic Craniosynostosis Alters the Regulatory Function of a Non-Coding Element, DOI: 10.1002/ajmg.a.38392. Photo Credit: Blake Carrington (NIH/NHGRI).
November 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29049146/outcomes-of-titanium-mesh-cranioplasty-in-pediatric-patients
#20
Irene T Ma, Melissa R Symon, Ruth E Bristol, Stephen P Beals, Edward F Joganic, P David Adelson, David H Shafron, Davinder J Singh
PURPOSE: Cranial defects in children have been repaired with various materials ranging from autologous bone to synthetic materials. There is little published literature on the outcomes of titanium mesh cranioplasty (TMC) in calvarial reconstruction in the pediatric population. This study evaluates a pediatric cohort who underwent calvarial defect reconstruction with titanium mesh and assesses the efficacy and outcomes of TMC. METHODS: An Institutional Review Board approved retrospective review of patients ≤18 years of age who underwent cranioplasty from 1999 to 2014 at 2 centers was performed...
October 18, 2017: Journal of Craniofacial Surgery
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