keyword
MENU ▼
Read by QxMD icon Read
search

Synostosis

keyword
https://www.readbyqxmd.com/read/28362187/three-dimensional-changes-in-head-shape-after-extended-sagittal-strip-craniectomy-with-wedge-ostectomies-and-helmet-therapy
#1
Pang-Yun Chou, Rami R Hallac, Shitel Patel, Min-Jeong Cho, Neil Stewart, James M Smartt, James R Seaward, Alex A Kane, Christopher A Derderian
OBJECTIVE Outcome studies for sagittal strip craniectomy have largely relied on the 2D measure of the cephalic index (CI) as the primary indicator of head shape. The goal of this study was to measure the 2D and 3D changes in head shape that occur after sagittal strip craniectomy and postoperative helmet therapy. METHODS The authors performed a retrospective review of patients treated with sagittal strip craniectomy at their institution between January 2012 and October 2015. Inclusion criteria were as follows: 1) isolated sagittal synostosis; 2) age at surgery < 200 days; and 3) helmet management by a single orthotist...
March 31, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28358760/the-degree-of-surgical-frontal-volume-correction-in-metopic-synostosis-determines-long-term-outcomes
#2
Madiha Bhatti-Söfteland, Giovanni Maltese, Peter Tarnow, Emma Wikberg, Peter Bernhardt, Lars Kölby
Metopic synostosis results in a keel-shaped forehead, reduced frontal intracranial volume (ICV), and lower frontal to total volume ratio. The ratio improves with cranioplasty, but at 3 years of age, the ratio is still not normalized when compared to that in normal children. The aim of the present study was to investigate whether a low frontal to total ICV ratio at 3 years of age was due to relapse or insufficient correction.All children surgically treated for metopic synostosis in combination with a spring at Sahlgrenska University Hospital with subsequent spring extraction between 2002 and 2008 (n = 20) were included...
March 29, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28356131/treatment-of-infants-with-syndromic-robin-sequence-with-modified-palatal-plates-a-minimally-invasive-treatment-option
#3
Silvia Müller-Hagedorn, Wolfgang Buchenau, Jörg Arand, Margit Bacher, Christian F Poets
BACKGROUND: Infants with Robin sequence (RS) suffer from upper airway obstruction (UAO) and feeding problems. We developed an oral appliance with a velar extension in combination with functional treatment and appropriate feeding techniques, which was proven effective in isolated RS. As the above problems are particularly challenging in syndromic RS, we set out to evaluate our treatment concept also in these patients. METHODS: We searched our electronic departmental database to identify all children admitted to our department between 01/01/2003 and 31/12/2009 because of syndromic RS...
March 30, 2017: Head & Face Medicine
https://www.readbyqxmd.com/read/28328141/a-590-kb-deletion-caused-by-non-allelic-homologous-recombination-between-two-line-1-elements-in-a-patient-with-mesomelia-synostosis-syndrome
#4
Tomohiro Kohmoto, Takuya Naruto, Miki Watanabe, Yuji Fujita, Sae Ujiro, Nana Okamoto, Hideaki Horikawa, Kiyoshi Masuda, Issei Imoto
Mesomelia-synostoses syndrome (MSS) is a rare, autosomal-dominant, syndromal osteochondrodysplasia characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations due to a non-recurrent deletion at 8q13 that always encompasses two coding-genes, SULF1 and SLCO5A1. To date, five unrelated patients have been reported worldwide, and MMS was previously proposed to not be a genomic disorder associated with deletions recurring from non-allelic homologous recombination (NAHR) in at least two analyzed cases...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28323804/transtibial-amputation-outcomes-study-taos-comparing-transtibial-amputation-with-and-without-a-tibiofibular-synostosis-ertl-procedure
#5
Michael J Bosse, Saam Morshed, Lisa Reider, William Ertl, James Toledano, Reeza Firoozabadi, Rachel B Seymour, Eben Carroll, Daniel O Scharfstein, Barbara Steverson, Ellen J MacKenzie
The optimal technique for a transtibial amputation in a young, active, and healthy patient is controversial. Proponents of the Ertl procedure (in which the cut ends of the tibia and fibula are joined with a bone bridge synostosis) argue that the residual limb is more stable which confers better prosthetic fit and improved function especially among high-performing individuals. At the same time, the Ertl procedure is associated with longer operative and healing time and may be associated with a higher complication rate compared with the standard Burgess procedure...
April 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28291436/the-effects-of-radial-bowing-and-complications-in-intramedullary-nail-fixation-of-adult-forearm-fractures
#6
Ali Çağdaş Yörükoğlu, Ahmet Fahir Demirkan, Alp Akman, Ali Kitiş, Hande Usta
OBJECTIVES: This study aims to evaluate the effects of radial bowing changes on fracture healing and functional results in adult forearm intramedullary nail applications and complications of forearm nails that have been discussed rarely in the literature. PATIENTS AND METHODS: Twenty-three patients -11 with isolated radius and 12 with both radius and ulna fractures- (17 males, 6 females; mean age 38.6 years; range 18 to 69 years) who were operated between September 2009 and August 2014 were included in the study...
April 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/28268141/mitigating-risk-of-ankle-valgus-from-ankle-osteochondroma-resection-using-a-transfibular-approach-a-retrospective-study-with-six-years-of-follow-up
#7
Benjamin Appy-Fedida, Elie Krief, François Deroussen, Marie-Christine Plancq, Louis-Michel Collet, Céline Klein, Richard Gouron
To prevent worsening of ankle valgus and functional repercussions, a distal inter-tibiofibular osteochondroma can be removed using a transfibular approach. We evaluated the difference between the preoperative and postoperative tibiotalar tilt at the last follow-up examination and the clinical and radiologic outcomes. We included 10 consecutive ankles that had undergone removal of an osteochondroma using a transfibular approach. The mean patient age was 10.6 years. One ankle was lost to follow-up. The mean postoperative follow-up duration was 5...
March 3, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28262513/analysis-of-the-cephalometric-changes-in-the-first-3-months-after-spring-assisted-cranioplasty-for-scaphocephaly
#8
O Ou Yang, D D Marucci, R J Gates, M Rahman, J Hunt, M P Gianoutsos, W R Walsh
BACKGROUND: Spring-assisted cranioplasty (SAC) has become an accepted treatment for patients with sagittal craniosynostosis; however, the early effects of springs on skull dimensions have never been assessed with objective measurements in the literature. The present study evaluated the changes in skull dimensions and intracranial volume (ICV) during the first 3 months after SAC for sagittal synostosis. METHODS: Sixteen patients with sagittal synostosis underwent SAC...
January 9, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28262468/congenital-myopathy-with-corona-fibres-selective-muscle-atrophy-and-craniosynostosis-associated-with-novel-recessive-mutations-in-scn4a
#9
Hernan D Gonorazky, Christian R Marshall, Maryam Al-Murshed, Lili-Naz Hazrati, Michael G Thor, Michael G Hanna, Roope Männikkö, Peter N Ray, Grace Yoon
We describe two brothers with lower facial weakness, highly arched palate, scaphocephaly due to synostosis of the sagittal and metopic sutures, axial hypotonia, proximal muscle weakness, and mild scoliosis. The muscle MRI of the younger sibling revealed a selective pattern of atrophy of the gluteus maximus, adductor magnus and soleus muscles. Muscle biopsy of the younger sibling revealed myofibres with internalized nuclei, myofibrillar disarray, and "corona" fibres. Both affected siblings were found to be compound heterozygous for c...
February 8, 2017: Neuromuscular Disorders: NMD
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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...
March 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
#17
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)...
April 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28145932/a-surgical-technique-for-management-of-the-metopic-suture-in-syndromic-craniosynostosis
#18
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
#19
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 filamin B (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...
May 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
#20
Caroline Driessen, Irene Mathijssen, Marie-Lise van Veelen
No abstract text is available yet for this article.
January 30, 2017: Journal of Craniofacial Surgery
keyword
keyword
34083
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"