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Congenital deformity

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https://www.readbyqxmd.com/read/29344705/-which-foot-deformities-should-be-radiologist-be-familiar-with
#1
REVIEW
E von Stillfried
Most deformities of the foot are visible at birth and can be diagnosed without imaging. They can be divided into congenital flexible, congenital structural and acquired foot deformities. The most common congenital flexible foot deformity in children is the metatarsus adductus, which usually requires no long-term therapy. Regarding congenital structural deformities, such as the clubfoot and talus verticalis, plaster therapy should be started during the first week of life, so that by the end of the first year of life and the beginning of the verticalization, a pain-free resilient foot with normal function is present...
January 17, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29344653/a-novel-variant-of-osteogenesis-imperfecta-type-iv-and-low-serum-phosphorus-level-caused-by-a-val94asp-mutation-in-col1a1
#2
Qi Yang, Hong Xu, Jinsi Luo, Qinle Zhang, Bobo Xie, Sheng Yi, Xiuliang Rong, Jin Wang, Zailong Qin, Tingting Jiang, Li Lin, Yangjin Zuo, Xin Fan
Osteogenesis imperfecta (OI) is a rare congenital disorder characterized by bone fragility and fractures, and associated with bone deformity, short stature, dentin, ligament and blue‑gray eye sclera. OI is caused by a heterozygous mutation in collagen α‑1(I) chain (COL1A1) or collagen α‑2(I) chain (COL1A2) genes that encode α chains of type I collagen. Collagen α chain peptide contains an N‑propeptide, which has a role in assembly and processing of collagen. Point mutations in the N‑propeptide domain appear to trigger OI...
January 16, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29336932/orthognathic-surgery-in-melnick-needles-syndrome-a-review-of-the-literature-and-report-of-two-siblings
#3
REVIEW
J E O'Connell, B Bourke, G J Kearns
Melnick-Needles syndrome (MNS) is a rare congenital X-linked dominant skeletal dysplasia, characterized by exophthalmos, a prominent forehead, and mandibular hypoplasia and retrognathism. Dental features may include anodontia, hypodontia, or oligodontia. Increased collagen content, unpredictable collagen synthesis, and abnormal bony architecture have raised concerns regarding bone splitting intraoperatively and bone healing postoperatively. This report describes the cases of two sisters with MNS, who successfully underwent orthognathic surgery consisting of bilateral mandibular ramus osteotomies combined with advancement genioplasty and iliac crest bone grafting, to correct the classical MNS facial deformity of mandibular retrognathia...
January 11, 2018: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29335900/hypercomplex-pedicle-subtraction-osteotomies-definition-early-clinical-and-radiological-results-and-complications
#4
Pedro Berjano, Andrea Zanirato, Domenico Compagnone, Andrea Redaelli, Marco Damilano, Claudio Lamartina
PURPOSE: To describe hypercomplex pedicle subtraction osteotomies (HyC-PSO) for adult spine deformity with sagittal imbalance in terms of preoperative, intraoperative and postoperative outcomes and complications. METHODS: From a prospective single centre database, patients undergoing PSO between January 2016 and May 2017 were reviewed. HyC-PSO were defined as those in patients with one of the following conditions: sagittal correction > 45° needed at a single level or at 1-3 consecutive vertebrae, more than 60° of total sagittal correction needed and PSO on segments of the spine with congenital deformities...
January 15, 2018: European Spine Journal
https://www.readbyqxmd.com/read/29335083/-clinical-and-cytogenetic-study-in-a-child-with-de-novo-chromosome-9-abnormality
#5
Bi-Yu Lu, Jian-Qiang Tan, De-Jian Yuan, Wen-Dan Wang, Xiao-Ni Wei, Ti-Zhen Yan, Ren Cai
This study aimed to analyze the clinical phenotype of chromosome 9p deletion or duplication and its relationship with karyotype. A patient, female, aged 6 months, visited the hospital due to motor developmental delay. Karyotype analysis identified abnormalities of chromosome 9 short arm, and high-throughput sequencing found 9p24.3-9p23 deletion and 9p23-9p13.1 duplication. Her parents had a normal karyotype. Karyotype analysis combined with high-throughput sequencing is of great significance for improving the efficiency of etiological diagnosis in children with motor developmental delay or multiple congenital deformities and mental retardation...
January 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29333373/correction-of-congenital-cleft-earlobe-with-front-and-back-flaps
#6
Selman Karaci, Rüştü Köse
Congenital auricular deformities may be either deformational or malformational. Malformational anomalies present with a skin or cartilage shortage. Two cases with congenital cleft earlobe were presented. A new surgical technique using a two-layered repair with front and back flaps were introduced. She waited to begin wearing earrings until six months after the surgery to prevent possible scar contracture. The patients were followed up for a period ranging from 3 to 14 months. The earlobe volume deficiency was replaced, and acceptable scar maturation was obtained...
December 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/29325984/minimally-invasive-repair-of-pectus-carinatum
#7
Mustafa Yuksel, Tunc Lacin, Nezih Onur Ermerak, Esra Yamansavci Sirzai, Bihter Sayan
BACKGROUND: The second most common deformity of the anterior chest wall, pectus carinatum, is a diverse deformity that has been largely managed using open techniques. This study reviews clinical experience with a newly designed bar for minimally invasive repair of pectus carinatum. METHODS: We reviewed the records of all patients recorded in our Chest Wall Deformities Clinical Database. Between January 2006 and November 2016, minimally invasive repair of pectus carinatum was performed in 172 patients...
January 9, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29318349/-imaging-diagnostics-of-the-foot-what-the-orthopaedic-surgeon-expects-from-the-radiologist
#8
REVIEW
C Putz, S Hagmann, T Dreher
CLINICAL/METHODICAL ISSUE: Foot pain is in the case of long-term congenital, acquired or posttraumatic foot deformities a relevant clinical problem. STANDARD RADIOLOGICAL METHODS: On the basis of the clinical findings and the orthopaedic question, radiographs of the foot while standing in two planes are supplemented by radiographs of the ankle in an anterior-posterior plane. The imaging diagnostics of the foot are based on the conventional X‑ray diagnostic workup and becomes even more precise and differentiated by the possibility of intersecting imaging procedures...
January 9, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29317056/a-potentially-curative-fetal-intervention-for-hypoplastic-left-heart-syndrome
#9
Andrew T Hattam
Hypoplastic left heart syndrome (HLHS) encapsulates a spectrum of complex congenital cardiovascular malformations involving varying degrees of underdevelopment of the left-sided heart structures. However, despite improved survival rates since the introduction of staged surgical reconstruction, treatment options for HLHS remain palliative rather than curative. A major limiting factor in the development of definitive curative therapy for HLHS is an incomplete understanding of its pathogenesis. Currently, the aetiology HLHS is best conceptualised by the 'flow theory' of cardiogenesis, which states that normal cardiac development is reliant on the interrelationship of normal flow patterns of blood through the developing heart, and appropriate growth of the cardiac valves and myocardium...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29314551/a-novel-pathogenic-myh3-mutation-in-a-child-with-sheldon-hall-syndrome-and-vertebral-fusions
#10
Marcello Scala, Andrea Accogli, Elisa De Grandis, Anna Allegri, Christoph P Bagowski, Moneef Shoukier, Mohamad Maghnie, Valeria Capra
Sheldon-Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive contractures. Patients with SHS present with contractures of the limbs and a distinctive triangular facies with prominent nasolabial folds. Calcaneovalgus deformity is frequent, as well as camptodactyly and ulnar deviation. Causative mutations in at least four different genes have been reported (MYH3, TNNI2, TPM2, and TNNT3). MYH3 plays a pivotal role in fetal muscle development and mutations in this gene are associated with Freeman-Sheldon syndrome, distal arthrogryposis 8 (DA8), and autosomal dominant spondylocarpotarsal synostosis...
January 5, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29310355/revision-surgery-for-lumbar-hemivertebra-in-a-7-year-old-child-with-10-year-follow-up-a-case-report-a-care-compliant-article
#11
Xuhong Xue, Sheng Zhao
RATIONALE: Hemivertebrae, which are the most frequent cause of congenital scoliosis, pose a challenge in terms of prognosis and therapy. The current gold standard treatment congenital scoliosis due to a lumbar and thoracic hemivertebra would be hemivertebra resection and short level posterior spinal fusion. Paucity literatures are reported for the treatment of hemivertebra by convex fusion with posterior hemivertebra excision. PATIENT CONCERNS: The patient was first noticed to have a spinal problem at 7 years of age...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29302380/a-case-of-fatal-pulmonary-hypoplasia-with-congenital-diaphragmatic-hernia-thoracic-myelomeningocele-and-thoracic-dysplasia
#12
Ai Ito, Hideshi Fujinaga, Sachiko Matsui, Kumiko Tago, Yuka Iwasaki, Shuhei Fujino, Junko Nagasawa, Shoichiro Amari, Masao Kaneshige, Yuka Wada, Shigehiro Takahashi, Keiko Tsukamoto, Osamu Miyazaki, Takako Yoshioka, Akira Ishiguro, Yushi Ito
Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care...
October 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29301805/block-vertebra
#13
Avinash Alva, Dimpu Bhagawati, Hilali Noordeen
We report a case of congenital kyphosis in a 5-year-old child. Although she was presented before the age of 1 year to her local orthopaedic unit, a definitive diagnosis of unsegmented vertebra was made when she was referred to our unit. The child was treated with posterior fusion, which improved part of the deformity and completely prevented progression. We discuss the case and the condition, which if ignored can lead to progressive painful deformity and paralysis.
January 4, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29289915/-congenital-anomalies-of-craniovertebral-junction-presenting-after-50-years-of-age-an-oxymoron-or-an-unusual-variation
#14
Pravin Salunke, Madhivanan Karthigeyan, Narasimhaiah Sunil, Vasundhara Rangan
OBJECTIVES: Manifestation of congenital anomalies of cranio-vertebral junction (CVJ) in the later half of life is unusual and intriguing. Coexisting cervical spondylotic changes with multilevel compression, poorer bone quality as well as less smooth post-surgical recuperation make management of elderly Congenital Atlantoaxial Dislocation/ Basilar Invagination (CAAD/BI) challenging. The clinico-radiological presentation, pathogenesis and outcome are analysed here. PATIENTS AND METHODS: Clinico-radiological data of 20 patients of CAAD/BI (with markers of congenital anomalies) presenting after 50 years of age, the challenges faced and outcomes after C1-C2 fusion have been analysed...
December 21, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29286959/congenital-quintus-valgus-an-extremely-rare-anomaly-a-case-report
#15
Ali J Electricwala, Jaffer T Electricwala
CASE: We present an unusual case of unilateral congenital quintus valgus of the left foot (congenital lateral deviation of the fifth [little] toe) in a 1.5-year-old boy. The child had no other congenital malformations. Radiographs revealed the abnormal presence of 2 accessory phalangeal ossicles in the fourth web space, leading to lateral deviation of the fifth toe. Remarkably, the ossicles of the middle and distal phalanges of the fifth toe were absent. Surgical excision of the accessory ossicles was performed, and correction of the deformity was achieved...
October 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29285106/pediatric-chiari-malformation-type-i-long-term-outcomes-following-small-bone-window-posterior-fossa-decompression-with-autologous-fascia-duraplasty
#16
Hai Liu, Chenlong Yang, Jun Yang, Yulun Xu
Chiari malformation type I (CM-I) is a common hindbrain disorder that is associated with deformity and elongation of the cerebellar tonsils. Although CM-I occurs in both pediatric and adult patients, its prevalence, clinical features and management in the pediatric population are not well defined. The current study evaluated a consecutive case series of 92 children (38 females and 54 males) who were diagnosed with congenital CM-I. All patients underwent small-bone-window posterior fossa decompression with autologous-fascia duraplasty...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29276878/the-use-of-nasal-trumpet-as-a-non-invasive-treatment-method-in-congenital-nasal-stenosis
#17
Özgür Kemal, Sinan Atmaca, Ayşe Bel-Çeçen, Berkan Düzgün, Hasibe Canan Aygün
Kemal Ö, Atmaca S, Bel-Çeçen A, Düzgün B, Aygün HC. The use of nasal trumpet as a non-invasive treatment method in congenital nasal stenosis. Turk J Pediatr 2017; 59: 210-213. Newborns and infants are dependent on nasal respiration and therefore, nasal obstructions may lead to life-threatening outcomes in this age group. Although the most common cause of nasal obstruction in newborns are choanal atresia, soft tissue edema, congenital nasal bone anomalies such as narrowness of the apertura piriformis and midnasal stenosis should be kept in mind...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29274010/the-challenge-of-hammock-mitral-valve-during-infancy-precise-preoperative-advanced-imaging-and-three-dimensional-modeling-augments-customized-operative-valve-reconstruction
#18
Dennis VanLoozen, Shawna McCafferty, William A Lutin, Anastasios C Polimenakos
Hammock mitral valve (MV), also known as anomalous mitral arcade, is a rare congenital anomaly. We report a case of a 10-month-old child who presented with congestive heart failure and was found to have severe mitral stenosis (MS) secondary to a hammock MV anomaly. Detailed advanced imaging with cardiac MRI and three-dimensional (3D) echocardiography favorably navigated a customized valve-sparing surgical reconstruction of the congenitally abnormal MV. Repair of a hammock MV is technically difficult with a guarded prognosis...
December 22, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/29250699/surgical-treatment-in-a-case-of-giant-macrodystrophia-lipomatosa-of-the-forefoot
#19
Romulus Fabian Tatu, Dan Nelu Anuşca, Alis Liliana Carmen Dema, Lucian Petru Jiga, Mihai Hurmuz, Carmen Sofica Tatu, Mihai Ionac, Monica Adriana Vaida
Macrodystrophia lipomatosa is a rare, congenital, non-hereditary disease, characterized by local gigantism of the fingers or toes. We report the case of a 37-month-old boy, with no prior past medical history, who presented with a gigantic dystrophy of the left forefoot. The location of the deformity was involving the plantar and dorsal aspect of the foot, and digits 1 to 4. After clinical examination, imaging study assessment, and differential diagnosis considerations, it was established that macrodystrophia lipomatosa was the cause of the deformity...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29246930/congenital-scoliosis-an-anomalous-association-with-endosulfan
#20
Jayakrishnan Kelamangalathu Narayana Kurup, Simanchal P Mohanty
Endosulfan is an organochlorine pesticide that is used extensively across the world to kill insects. Incidence of acute and chronic toxicity with endosulfan poisoning has been reported, and nearly 80 countries have banned its use. However, it is still being used in many low-income/middle-income countries. One of the most severe tragedies because of endosulfan poisoning has taken place in the Indian state of Kerala due to persistent aerial spraying of endosulfan. Even though there are reports of skeletal and other congenital abnormalities in humans and experimental animals following exposure to endosulfan, very few have been documented...
December 14, 2017: BMJ Case Reports
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