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https://www.readbyqxmd.com/read/28220539/a-contiguous-gene-deletion-neighboring-twist1-identified-in-a-patient-with-saethre-chotzen-syndrome-associated-with-neurodevelopmental-delay-possible-contribution-of-hdac9
#1
Hiroko Shimbo, Tatsuki Oyoshi, Kenji Kurosawa
Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities. Haploinsufficiency of TWIST1, a basic helix-loop-helix transcription factor is responsible for SCS. Here, we report a 15-month-old male patient with typical clinical features of SCS in addition to developmental delay, which is a rare complication in SCS. He showed a de novo 0.9-Mb microdeletion in 7p21, in which TWIST1, NPMIP13, FERD3L, TWISTNB, and HDAC9 were included...
February 21, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28214971/complete-occipitalization-of-the-atlas-with-bilateral-external-auditory-canal-atresia
#2
Janez Dolenšek, Erika Cvetko, Žiga Snoj, Marija Meznaric
Fusion of the atlas with the occipital bone is a rare congenital dysplasia known as occipitalization of the atlas, occipitocervical synostosis, assimilation of the atlas, or atlanto-occipital fusion. It is a component of the paraxial mesodermal maldevelopment and commonly associated with other dysplasias of the craniovertebral junction. External auditory canal atresia or external aural atresia is a rare congenital absence of the external auditory canal. It occurs as the consequence of the maldevelopment of the first pharyngeal cleft due to defects of cranial neural crest cells migration and/or differentiation...
February 18, 2017: Surgical and Radiologic Anatomy: SRA
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/28205584/a-postnatal-role-for-embryonic-myosin-revealed-by-myh3-mutations-that-alter-tgf%C3%AE-signaling-and-cause-autosomal-dominant-spondylocarpotarsal-synostosis
#4
Jennifer Zieba, Wenjuan Zhang, Jessica X Chong, Kimberly N Forlenza, Jorge H Martin, Kelly Heard, Dorothy K Grange, Merlin G Butler, Tjitske Kleefstra, Ralph S Lachman, Deborah Nickerson, Michael Regnier, Daniel H Cohn, Michael Bamshad, Deborah Krakow
Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in the gene that encodes the cytoskeletal protein filamin B (FLNB), but a subset do not have FLNB mutations. Exome sequence analysis of three SCT patients negative for FLNB mutations identified an autosomal dominant form of the disease due to heterozygosity for missense or nonsense mutations in MYH3, which encodes embryonic myosin...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28197353/scaphoid-fracture-in-a-patient-with-a-scaphotrapezial-synostosis-a-case-report-and-literature-review
#5
Soliman Noureldin, Mohammed Ali, Farshid Fallahi, Thomas Dehler
Introduction. Scaphotrapezial synostosis has been rarely reported in the literature and only one case underwent surgical treatment for scaphoid fracture. Presentation of Case. A 15-year-old male presented with a painful left wrist following a fall. The initial radiographs showed a displaced scaphoid proximal pole fracture and a Scaphotrapezial synostosis. The fracture was then fixed percutaneously with satisfactory outcome. Discussion. Scaphotrapezial synostoses are very rare and most found in patients with multiple congenital anomalies or as part of a hereditary syndrome...
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/28193122/pathological-fracture-in-a-patient-with-an-untreated-congenital-metacarpal-synostosis
#6
S Farr, W Girsch
No abstract text is available yet for this article.
February 1, 2017: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/28159480/quantifying-the-effect-of-corrective-surgery-for-trigonocephaly-a-non-invasive-non-ionizing-method-using-three-dimensional-handheld-scanning-and-statistical-shape-modelling
#7
Naiara Rodriguez-Florez, Özge K Göktekin, Jan L Bruse, Alessandro Borghi, Freida Angullia, Paul G M Knoops, Maik Tenhagen, Justine L O'Hara, Maarten J Koudstaal, Silvia Schievano, N U Owase Jeelani, Greg James, David J Dunaway
Trigonocephaly in patients with metopic synostosis is corrected by fronto-orbital remodelling (FOR). The aim of this study was to quantitatively assess aesthetic outcomes of FOR by capturing 3D forehead scans of metopic patients pre- and post-operatively and comparing them with controls. Ten single-suture metopic patients undergoing FOR and 15 age-matched non-craniosynostotic controls were recruited at Great Ormond Street Hospital for Children (UK). Scans were acquired with a three-dimensional (3D) handheld camera and post-processed combining 3D imaging software...
January 10, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28156213/structural-brain-differences-in-school-age-children-with-and-without-single-suture-craniosynostosis
#8
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
#9
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/28145000/filamin-b-loss-of-function-mutation-in-dimerization-domain-causes-autosomal-recessive-spondylocarpotarsal-synostosis-syndrome-with-rib-anomalies
#10
Chi-Fan Yang, Chung-Hsing Wang, Weng Siong H'ng, Chun-Ping Chang, Wei- De Lin, Yuan-Tsong Chen, Jer-Yuarn Wu, Fuu-Jen Tsai
Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. Mutations in FLNB and MYH3 have been reported for autosomal recessive and autosomal dominant SCT, respectively. We present a family with two patients suffering from autosomal recessive SCT with rib anomalies, including malalignment, crowding, and uneven size and shape of ribs...
February 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28141654/update-on-treatment-of-sagittal-synostosis-what-can-we-learn-from-the-16th-congress-of-the-international-society-of-craniofacial-surgery
#11
Caroline Driessen, Irene Mathijssen, Marie-Lise van Veelen
No abstract text is available yet for this article.
January 30, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28141639/craniotomy-of-the-fused-sagittal-suture-over-the-superior-sagittal-sinus-is-a-safe-procedure
#12
David Kölby, Sara Fischer, Khalid Arab, Giovanni Maltese, Robert Olsson, Anna Paganini, Peter Tarnow, Lars Kölby
INTRODUCTION: Spring-assisted cranioplasty to correct sagittal synostosis is based on midline craniotomy through the closed sagittal suture, over the superior sagittal sinus (SSS). The aim of the present study was to evaluate the perioperative safety of this technique. MATERIALS AND METHODS: This is a retrospective study of all patients operated with median craniotomy and springs from 1998 to the end of 2015. For comparison, all Pi-plasties performed during the same time interval were also evaluated...
January 30, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28140668/a-family-with-craniofrontonasal-syndrome-the-first-report-of-familial-cases-of-craniofrontonasal-syndrome-with-bilateral-cleft-lip-and-palate
#13
Yoshikazu Inoue, Yoshiaki Sakamoto, Masanori Sugimoto, Hidehito Inagaki, Hiroko Boda, Masafumi Miyata, Hideteru Kato, Hiroki Kurahashi, Takayuki Okumoto
Craniofrontonasalsyndrome (CFNS) is a very rare genetic disorder, the common physical malformations of which include coronal synostosis, widely spaced eyes, clefting of the nasal tip, and various skeletal anomalies. Mutations of EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the cause of CFNS. Although familial CFNS cases have been reported, no studies in the literature describe familial cases of CFNS expressing bilateral cleft lip and palate...
January 31, 2017: Cleft Palate-craniofacial Journal
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
#14
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/28121881/the-severity-of-deformity-in-metopic-craniosynostosis-is-correlated-with-the-degree-of-neurologic-dysfunction
#15
Jenny F Yang, Eric D Brooks, Peter W Hashim, Hannah S Reuman, Roberto Travieso, Jordan Terner, Linda C Mayes, Derek M Steinbacher, John A Persing, James C McPartland
BACKGROUND: In recent years, metopic synostosis has represented up to 25 percent of all nonsyndromic craniosynostosis cases, manifesting with varying degrees of trigonocephaly. It is unknown whether the degree of severity of anterior dysmorphology is proportionate to neurologic dysfunction. This knowledge is essential to guide future surgical treatment recommendations. Given the reported correlation of abnormal auditory processing with future language dysfunction and poorer academic performance in craniosynostosis patients, the present study aims to evaluate auditory processing in preoperative patients with moderate and severe metopic synostosis, and in control infants, to discern the neurologic risk carried by different severities of trigonocephaly...
February 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28104092/the-use-of-indomethacin-in-the-prevention-of-postoperative-radioulnar-synostosis-after-distal-biceps-repair
#16
Callista L Costopoulos, Joseph A Abboud, Matthew L Ramsey, Charles L Getz, Daniel S Sholder, John P Taras, Daniel Huttman, Mark D Lazarus
BACKGROUND: This study evaluated the incidence of symptomatic radioulnar synostosis/heterotopic ossification after distal biceps tendon repair in patients receiving indomethacin prophylaxis. We hypothesized that indomethacin use postoperatively would decrease the occurrence of symptomatic synostosis. METHODS: A single-center retrospective record review identified 124 patients undergoing distal biceps repair between 2011 and 2014. Patients were analyzed for administration of indomethacin, contraindications to administration, age, time to surgery, fixation method, medical comorbidities, and development of symptomatic synostosis...
February 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28072734/closed-reduction-using-the-percutaneous-leverage-technique-and-internal-fixation-with-k-wires-to-treat-angulated-radial-neck-fractures-in-children-case-report
#17
Hai Jiang, Yongtao Wu, Youting Dang, Yusheng Qiu
: Pediatric radial neck fractures are uncommon. Severely displaced and angulated fractures usually require treatment. Our goals for treatment are to avoid incision, reduce the fracture adequately with no reduction loss, and achieve good postoperative function. We aimed to observe the clinical outcomes of closed reduction with the percutaneous leverage technique and internal fixation with Kirschner-wires (K-wires) to treat angulated radial neck fractures in children.From January 2011 to April 2013, we treated 16 cases of angulated radial neck fracture in 12 boys and 4 girls...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28060197/identical-twins-discordant-for-metopic-craniosynostosis-evidence-of-epigenetic-influences
#18
Suresh N Magge, Kendall Snyder, Aparna Sajja, Tiffani A DeFreitas, Sean E Hofherr, Richard E Broth, Robert F Keating, Gary F Rogers
Craniosynostosis, or premature fusion of the cranial sutures, occurs in approximately 1 in 2500 live births. The genetic causes and molecular basis of these disorders have greatly expanded over the last 2 decades, with numerous causative and contributory mutations having been identified. The role of fibroblast growth factor receptor (FGFR) mutations in the etiology of certain eponymous forms of craniosynostosis is now well elucidated; the most common syndromes associated with craniosynostosis are Pfeifer (FGFR1, FGFR2), Apert (FGFR2), Crouzon (FGFR2), Saethre-Chotzen (TWIST1), Jackson-Weiss (FGFR2), Greig (GL13), and Muenke (FGFR3) syndromes...
January 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28059851/treatment-of-unilateral-lambdoid-synostosis-using-cranium-distraction-osteogenesis-with-z-shaped-osteotomy
#19
Shen Weimin, Jie Cui, Jianbing Chen, Qingwen Gao
PURPOSE: We studied the effect of cranium distraction osteogenesis using Z-shaped osteotomy to treat unilateral lambdoid synostosis. METHODS: Simulating the occipital, parietal, and temporal bones as a hemisphere, we designed a lambdoid suture that connected parallel osteotomy and sagittal sutures or extended to fossa cranii posterioras much like the parallel lines connect the upper and lower aspects of the letter Z. Two to 3 distraction devices were then installed after the Z-shaped osteotomy suture...
March 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28059092/bone-marrow-morphology-and-disease-progression-in-congenital-thrombocytopenia-a-detailed-clinicopathologic-and-genetic-study-of-eight-cases
#20
Hamilton C Tsang, James B Bussel, Susan Mathew, Yen-Chun Liu, Allison A Imahiyerobo, Attilio Orazi, Julia T Geyer
Patients with congenital thrombocytopenia have an increased risk of developing myeloid neoplasms. In these cases, the morphologic distinction between disease at baseline and at progression is challenging. This report analyzes clinicopathologic features of congenital thrombocytopenia with long-term follow-up at one referral center. Records from the last 20 years were searched for cases of congenital thrombocytopenia with bone marrow biopsies and peripheral blood smears. The clinical, morphologic, immunophenotypic, and molecular features were analyzed...
January 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
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