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Congenital deformity

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https://www.readbyqxmd.com/read/28413599/rare-features-associated-with-mobius-syndrome-report-of-two-cases
#1
Rumela Ghosh, Vikram Shetty, Shruthi Hegde, G Subhas Babu, Vidya Ajila, Nanda Kishore P, Mithula Nair
Mobius syndrome is a rare congenital disorder with the preliminary diagnostic criteria of congenital facial and abducent nerve palsy. Involvement of other cranial nerves, too, is common. Prevalence rate of this syndrome is approximately 1 in 100,000 neonates. It is of unknown etiology with sporadic occurrence. However, data regarding the occurrence rate in India is limited. Features such as orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities might be associated...
2017: Journal of Dental Research, Dental Clinics, Dental Prospects
https://www.readbyqxmd.com/read/28400656/congenital-muscular-torticollis-use-of-gaze-angle-and-translational-deformity-in-assessment-of-facial-asymmetry
#2
Atul Bhaskar, U Harish, Hardik Desai
BACKGROUND: Assessment of facial asymmetry is challenging in torticollis deformity. Neck tilt in toroticollis is associated with deviation of horizontal ocular gaze and translation of neck from the midline. These deviations can be assessed clinically and can be used as surrogate marker for facial asymmetry. MATERIALS AND METHODS: Thirty five children with congenital muscular torticollis (CMT) were classified into three grades of severity based on the new clinical score...
March 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/28392059/a-new-method-for-three-dimensional-evaluation-of-the-cranial-shape-and-the-automatic-identification-of-craniosynostosis-using-3d-stereophotogrammetry
#3
J W Meulstee, L M Verhamme, W A Borstlap, F Van der Heijden, G A De Jong, T Xi, S J Bergé, H Delye, T J J Maal
Craniosynostosis is a congenital defect which can result in abnormal cranial morphology. Three dimensional (3D) stereophotogrammetry is potentially an ideal technique for the evaluation of cranial morphology and diagnosis of craniosynostosis because it is fast and harmless. This study presents a new method for objective characterization of the morphological abnormalities of scaphocephaly and trigonocephaly patients using 3D photographs of patients and healthy controls. Sixty 3D photographs of healthy controls in the age range of 3-6 months were superimposed and scaled...
April 6, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28390109/vascularized-composite-allograft-vca-donation-and-transplantation-a-survey-of-public-attitudes-in-the-united-states
#4
James R Rodrigue, David Tomich, Aaron Fleishman, Alexandra K Glazier
Vascularized composite allograft (VCA) transplantation has emerged as a groundbreaking surgical intervention to return identity and function following traumatic injury, congenital deformity, or disfigurement. While public attitudes toward traditional organ/tissue donation are favorable, little is known about attitudes toward VCA donation and transplantation. A survey was conducted of 1,485 U.S. residents in August 2016 to assess VCA donation attitudes. Participants also completed the Revised Health Care System Distrust Scale...
April 8, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28384947/comparative-analysis-between-podography-and-radiography-in-the-management-of-idiopathic-clubfeet-by-ponseti-technique
#5
Vikas Trivedi, Sumit Badhwar, Abhay S Dube
INTRODUCTION: Idiopathic clubfoot is one of the most common and oldest congenital foot anomalies. There are controversies regarding its optimum management protocol and methodologies to be employed for its functional outcome evaluation. This paper attempts to propose a simple, reasonable and easily reproducible technique of podography for clinical and functional evaluation of clubfoot treated by the popular Ponseti technique. AIM: To compare the Foot Bimalleolar (FBM) angle method (podography) and radiography with respect to management of idiopathic clubfoot by Ponseti's Technique and its functional evaluation...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28383091/a-new-technique-for-the-surgical-treatment-of-atlantoaxial-instability-c1-lateral-mass-and-c2-3-transfacet-screwing
#6
Salim Senturk, Goktug Akyoldas, Onur Yaman, Ali Fahir Ozer
AIM: Atlantoaxial instability is a special entity that may be caused by many disorders such as trauma, tumor, arthritis, congenital malformation and infection. Atlantoaxial fixation is needed to provide stability, prevent neurological deficits and correct deformity. The objective of this study is to introduce an alternative technique for the treatment of atlantoaxial instability in patients who have vertebral artery anomaly, anomalous C2 or osteoporosis. MATERIAL AND METHODS: C1-2-3 fixation was performed in a 50-years-old, male patient with atlantoaxial instability due to os odontoideum...
March 9, 2017: Turkish Neurosurgery
https://www.readbyqxmd.com/read/28379158/exome-sequencing-identified-a-novel-fbn2-mutation-in-a-chinese-family-with-congenital-contractural-arachnodactyly
#7
Guoling You, Bailing Zu, Bo Wang, Zhigang Wang, Yunlan Xu, Qihua Fu
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, camptodactyly, contrature of major joints, scoliosis, pectus deformities, and crumpled ears. The present study aimed to identify the genetic cause of a three-generation Chinese family with CCA. We successfully identified a novel missense mutation p.G1145D in the fibrillin-2 (FBN2) gene as the pathogenic mutation by whole exome sequencing (WES). The p.G1145D mutation occurs in the 12th calcium-binding epidermal growth factor-like (cbEGF) domain...
April 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28375896/american-orthopaedic-surgeons-in-world-war-i
#8
David P Green, Jesse C DeLee
On April 6, 1917, the United States declared war on Germany and entered what was then called the Great War. Among the first officers sent to Europe were 21 orthopaedic surgeons in the so-called First Goldthwait Unit. Prior to the war, orthopaedics had been a nonoperative "strap-and-buckle" specialty that dealt primarily with infections, congenital abnormalities, and posttraumatic deformity. The Great War changed all of that forever, creating a new surgical specialty with emphasis on acute treatment, prevention of deformity, restoration of function, and rehabilitation...
April 5, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28368069/-congenital-goiter-in-the-neonatal-foal-two-case-reports
#9
Jennifer Nieth, Kernt Köhler, Axel Wehrend
Two cases of an innate hyperplastic goiter in foals as well as the sonographic evaluation of the hyperplastic gland are presented. One foal displayed skeletal deformities in the form of a mandibular prognathism and forelimb contractures in addition to the swollen thyroid gland. Because of a poor prognosis, the animal was euthanized. The second foal was premature and displayed respiratory signs. Under symptomatic therapy, the goiter regressed within a few weeks.
April 3, 2017: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
https://www.readbyqxmd.com/read/28364526/expanding-role-of-orbital-decompression-in-aesthetic-surgery
#10
Mehryar Ray Taban
Background: Eye prominence is a source of cosmetic "deformity" for many patients not afflicted by Graves. Objectives: To report our experience in using customized orbital decompression for purely aesthetic reason to reduce eye prominence in non-thyroid patients. Methods: Retrospective analysis of patients undergoing cosmetic orbital decompression by one surgeon. Surgical technique included customized graded orbital bony-wall decompression (lateral-wall, basin, medial-wall, posterior-strut) and intraconal fat removal using eyelid crease and/or caruncle incisions...
April 1, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/28364335/neurological-complications-of-thoracic-posterior-vertebral-column-resection-for-severe-congenital-spinal-deformities
#11
Bo-Bo Zhang, Tao Zhang, Hui-Ren Tao, Tai-Lin Wu, Chun-Guang Duan, Wei-Zhou Yang, Tao Li, Feng Li, Ming Liu, Wen-Rui Ma, Wei Su
PURPOSE: The risk of neurological injury during vertebral column resection is high. In this study, we investigated the incidence and risk factors for neurological complications when treating spinal deformities by thoracic posterior vertebral column resection (PVCR). METHODS: Between 2008 and 2013, there were 62 consecutive patients (34 female patients and 28 male; the mean age: 16.3 years, range 6-46 years) treated with thoracic PVCR. We retrospectively reviewed the clinical records to obtain demographic and radiographic data, operative time, estimated blood loss (EBL, the ratio between circulating and lost blood), bleeding volume (the lost blood), number of vertebrae fused, number of vertebrae resected, usage of titanium mesh cage, and intraoperative neuromonitoring data...
March 31, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28363676/variable-operative-experience-in-hand-surgery-for-plastic-surgery-residents
#12
Jason Silvestre, Ines C Lin, Lawrence Scott Levin, Benjamin Chang
BACKGROUND: Efforts to standardize hand surgery training during plastic surgery residency remain challenging. We analyze the variability of operative hand experience at U.S. plastic surgery residency programs. METHODS: Operative case logs of chief residents in accredited U.S. plastic surgery residency programs were analyzed (2011-2015). Trends in fold differences of hand surgery case volume between the 10th and 90th percentiles of residents were assessed graphically...
March 28, 2017: Journal of Surgical Education
https://www.readbyqxmd.com/read/28356686/evaluating-the-use-of-octyl-2-cyanoacrylate-in-unilateral-cleft-lip-repair
#13
Vijaylaxmy Malhotra, J K Dayashankara Rao, Varun Arya, Shalender Sharma, Sushil Singh, Payal Luthra
BACKGROUND: Facial cosmetic results are one of the most concerning issues for the parents who get their children operated for cleft lip. Moreover, the postoperative care of the surgical site, the discomfort associated with the suture removal, and additional visit for suture removal are other reasons which encourages one to use any new technologies that may replace the need for suture placement. In this study, we used octyl-2-cyanoacrylate, a tissue adhesive which offers a viable alternative to traditional techniques without compromising optimal wound closure...
July 2016: National Journal of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28344182/repair-of-frontoethmoidal-encephalocele-in-the-philippines-an-account-of-30-cases-between-2008-2013
#14
Amanda-Lynn Marshall, Pradeep Setty, Mark Hnatiuk, Daniel R Pieper
BACKGROUND: Frontoethmoidal encephalocele is a congenital abnormality of the anterior skull base involving herniation of cranial contents through a midline skull defect. Patency of the foramen cecum, along with other multifactorial variables, contribute to the development of frontoethmoidal encephaloceles. Due to limited resources, financial constraints, and lack of surgical expertise, repair of frontoethmoidal encephaloceles are limited in developing countries. METHODS: Between 2008-2013 an interdisciplinary team composed of neurosurgeons, craniofacial surgeons, otolaryngologists, plastic surgeons and nursing personnel, conducted surgical mission trips to Davao City in Mindanao, Philippines...
March 23, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28344020/the-incidence-of-isolated-penile-torsion-in-north-india-a-study-of-5-018-male-neonates
#15
Amilal Bhat, Mahakshit Bhat, Vinay Kumar, Suresh Goyal, Akshita Bhat, Madhu Patni
OBJECTIVE: Congenital penile torsion is a three-dimensional deformity with helical rotation of the distal corporal bodies with the penile crurae remaining fixed to the pubic rami. The first case of congenital penile torsion (hypospadias) was described in 1857. Isolated penile torsion is an under-reported anomaly. The reported incidence of isolated penile torsion is 1.7-27% and severe torsion is 0.7%. There are no studies available from Indian subcontinent on the incidence of isolated penile torque...
March 1, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28343240/childhood-angular-kyphosis-a-plea-for-involvement-of-the-pediatric-neurosurgeon
#16
E Cornips, S Koudijs, J Vles, L van Rhijn
INTRODUCTION: Childhood angular kyphosis is rare, as most children are affected by a mixed kyphotic and scoliotic deformity. Published series involving a mix of kyphosis and kyphoscoliosis, pediatric and adult, congenital and acquired cases are almost exclusively authored by orthopedic surgeons, suggesting that (pediatric) neurosurgeons are not involved. CASE SERIES: We present five cases that illustrate the spectrum of angular kyphosis, and these were treated by a multidisciplinary team including child neurologist, orthopedic surgeon, and pediatric neurosurgeon as complementary partners...
March 25, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28342821/correction-of-axial-deformity-during-lengthening-in-fibular-hypoplasia-hexapodal-versus-monorail-external-fixation
#17
Antoine Chalopin, Loïc Geffroy, Sébastien Pesenti, Antoine Hamel, Franck Launay
INTRODUCTION: Childhood fibular hypoplasia is a rare pathology which may or may not involve limb-length discrepancy and axial deformity in one or more dimensions. The objective of the present study was to compare the quality of the axial correction achieved in lengthening procedures by hexapodal versus monorail external fixators. The hypothesis was that the hexapodal fixator provides more precise correction. MATERIAL AND METHODS: A retrospective multicenter study included 52 children with fibular hypoplasia...
March 22, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28330575/clinical-management-of-the-homozygous-%C3%AE-thalassemia-with-unusual-mandibular-manifestation-of-hematopoiesis
#18
J A Ruiz-Roca, R E Oñate-Sánchez, I Urrutia-Rodríguez, A Martínez-Izquierdo, D Mengual-Pujante, F J Rodríguez-Lozano
Alpha (α)-thalassemias are the most common genetic disorder of hemoglobin (Hb) synthesis, affecting up to 5% of the world's population. These congenital hemolytic anemias induce extramedullary hematopoiesis, including the liver, spleen, sinuses, and the diploic spaces of the skull. Oral health problems in patients with thalassemias are mostly related to a varied degree of facial deformities, malocclusions, and/or dental arch dimensions. We present a case with a 49-year-old man, diagnosed with homozygous α thalassemia that came to the Faculty of Dentistry at the University of Murcia for a dental treatment...
February 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28326341/cdc42-is-crucial-for-facial-and-palatal-formation-during-craniofacial-development
#19
Mutsuko Oshima-Nakayama, Atsushi Yamada, Tamaki Kurosawa, Ryo Aizawa, Dai Suzuki, Yoshiro Saito, Hidetoshi Kassai, Yuki Sato, Matsuo Yamamoto, Tatsuo Shirota, Atsu Aiba, Koutaro Maki, Ryutaro Kamijo
Craniofacial deformities with multifactorial etiologies, such as cleft palate and facial dysmorphism, represent some of the most frequent congenital birth defects seen in humans. Their pathogeneses are often related to cranial neural crest (CNC) cells. During CNC cell migration, changes in cell shape and formation, as well as maintenance of subcellular structures, such as filopodia and lamellipodia, are dependent on the complex functions of Rho family small GTPases, which are regulators of actin cytoskeletal organization...
December 2016: Bone Reports
https://www.readbyqxmd.com/read/28325699/spinal-correction-in-patients-with-fukuyama-congenital-muscular-dystrophy
#20
Wataru Saito, Takanori Namba, Gen Inoue, Takayuki Imura, Masayuki Miyagi, Toshiyuki Nakazawa, Eiki Shirasawa, Kentaro Uchida, Masashi Takaso
BACKGROUND: Fukuyama congenital muscular dystrophy (FCMD) is one of the most common congenital progressive muscular dystrophies in Japan. Some patients develop a severe spinal deformity that leads to an unstable sitting position or pain. Since 2008, we have treated FCMD using posterior spinal fusion. This study reports the short-term clinical and radiographic results of posterior spinal correction and fusion in FCMD. METHODS: We retrospectively reviewed 11 consecutive FCMD patients, average age 13 years old, treated with posterior spinal instrumentation and fusion between 2008 and 2015...
March 18, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
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