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Equinovarus

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https://www.readbyqxmd.com/read/29760779/a-boy-with-developmental-delay-and-mosaic-supernumerary-inv-dup-5-p15-33p15-1-leading-to-distal-5p-tetrasomy-case-report-and-review-of-the-literature
#1
Pavel Tesner, Jana Drabova, Miroslav Stolfa, Martin Kudr, Martin Kyncl, Veronika Moslerova, Drahuse Novotna, Radka Kremlikova Pourova, Eduard Kocarek, Tereza Rasplickova, Zdenek Sedlacek, Marketa Vlckova
Background: With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or isochromosomes. The patients share common but unspecific symptoms such as developmental delay, seizures, ventriculomegaly, hypotonia, and fifth finger clinodactyly. Simple interstitial duplications leading to trisomies of parts of 5p are much more frequent and better described. Duplications encompassing 5p13.2 cause a defined syndrome with macrocephaly, distinct facial phenotype, heart defects, talipes equinovarus, feeding difficulties, respiratory distress and anomalies of the central nervous system, developmental delay and hypotonia...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29754137/unusual-cause-of-brachial-palsy-with-diaphragmatic-palsy
#2
Vishal Gupta, Aakash Pandita, Astha Panghal, Neha Hassan
We report a preterm neonate born with respiratory distress. The neonate was found to have diaphragmatic palsy and brachial palsy. The neonate was born by caesarean section and there was no history of birth trauma. On examination, there was bilateral congenital talipes equinovarus and a scar was present on the forearm. The mother had a history of chickenpox during the 16 weeks of pregnancy for which no treatment was sought. On investigation, PCR for varicella was found to be positive in the neonate.
May 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29721344/urethral-duplication-with-a-cystic-phallic-urethra-associated-with-a-uterus-didelphys-partial-agenesis-of-the-tibia-and-an-equinovarus-foot
#3
Edwige Kafando, Boniface Moifo, Landry Mbouche, Derek Ndangoh, Evelyn Mah, Faustin Mouafo Tambo
Urethral duplication is a rare congenital malformation, especially in females. It may be associated with complex urogenital malformations, but the association with a cystic phallic urethra and a uterus didelphys is exceptional. We report a case of a newborn with urethral duplication, with the accessory urethra exteriorized by a large cyst, associated with a uterus didelphys and bone malformations. We discuss the clinical, radiographic, and therapeutic aspects as well as a literature review.
2018: Case Reports in Radiology
https://www.readbyqxmd.com/read/29642612/ponseti-technique-for-the-management-of-congenital-talipes-equinovarus-in-a-rural-set-up-in-india-experience-of-356-patients
#4
Rohit Malhotra, Ashutosh Mohapatra, Geetika Arora, Priyam Choudhury, Hitesh Joshi, Pranav Patel
Congenital talipes equinovarus (CTEV), also known as clubfoot, is a complex congenital deformity of the foot that, left untreated, can limit a person's mobility by making it difficult and painful to walk. Worldwide, 80% of children born with clubfoot are in low- and middle-income countries. The management of clubfoot has a long history. Non-operative management did not become popular, as an increasing number of orthopaedists started leaning towards surgical treatment. The late Dr. Ignacio Ponseti developed a method of clubfoot correction that successfully realigns clubfoot in infants without extensive and major surgery...
April 10, 2018: Children
https://www.readbyqxmd.com/read/29599822/novel-phenotype-of-5p13-3-q11-2-duplication-resulting-from-supernumerary-marker-chromosome-5-implications-for-management-and-genetic-counseling
#5
Margaret E Armstrong, David D Weaver, Melissa D Lah, Gail H Vance, Benjamin J Landis, Stephanie M Ware, Benjamin M Helm
Background: Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this study is to highlight the unique findings of a patient with a 5p13.3-q11.2 duplication arising from a SMC5 and compare and contrast the phenotype with cases in the literature. Case presentation: We report on an adult male with a 22 Mb duplication of chromosome 5p13...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29530514/functional-outcomes-following-ultrasound-guided-botulinum-toxin-type-a-injections-to-reduce-spastic-equinovarus-in-adult-post-stroke-patients
#6
Semra Aktürk, Raikan Büyükavcı, Yüksel Ersoy
OBJECTIVE: The aim of this study is to identify the effect on spasticity and walking of US-guided botulinum toxin type A (BoNT-A) injections administered to improve equinovarus walking pattern commonly observed in patients after stroke. MATERIAL AND METHOD: Twenty-three patients with post-stroke spastic equinovarus deformity were recruited. The US-guided BoNT-A injections were administered into the spastic muscles (including gastrocnemius; GK, soleus; S and tibialis posterior; TP) using a specific approach, and all of the patients were enrolled in rehabilitation programmes after the injections...
March 9, 2018: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29482203/management-of-gait-impairments-in-chronic-unilateral-upper-motor-neuron-lesions-a-review
#7
Jorik Nonnekes, Nathalie Benda, Hanneke van Duijnhoven, Frits Lem, Noël Keijsers, Jan Willem K Louwerens, Allan Pieterse, Bertjo Renzenbrink, Vivian Weerdesteyn, Jaap Buurke, Alexander C H Geurts
Importance: Gait impairments are common in patients with chronic supratentorial upper motor neuron lesions and are a source of disability. Clinical management aimed at improving the gait pattern in these patients is generally perceived as a challenging task because many possible abnormalities may interact. Moreover, a multitude of treatment options exist, ranging from assistive devices and muscle stretching to pharmacologic and surgical interventions, but evidence is inconclusive for most approaches and clear treatment guidelines are lacking...
February 26, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29443383/a-b3galt6-variant-in-patient-originally-described-as-al-gazali-syndrome-and-implicating-the-endoplasmic-reticulum-quality-control-in-the-mechanism-of-some-%C3%AE-3galt6-pathy-mutations
#8
A Ben-Mahmoud, S Ben-Salem, M Al-Sorkhy, A John, B R Ali, L Al-Gazali
Al-Gazali syndrome encompasses several clinical features including prenatal growth retardation, large joints contractures with camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. Recently, a baby with features very similar to Al-Gazali syndrome was found to have compound heterozygous variants in B3GALT6. This gene encodes Beta-1,3-galactosyltransferase 6 (β3GalT6), an essential component of the glycosaminoglycan synthesis pathway. Pathogenic variants in B3GALT6 have also been shown to cause Ehlers-Danlos syndrome spondylodysplastic type (spEDS-B3GALT6) and spondyloepimetaphyseal dysplasia with joint laxity type I (SEMD-JL1)...
February 14, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#9
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
June 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29282147/spina-bifida-cystica-and-severe-congenital-bilateral-talipes-equinovarus-in-one-twin-of-a-monoamniotic-pair-a-case-report
#10
Benjamin Momo Kadia, Desmond Aroke, Frank-Leonel Tianyi, Ndemazie Nkafu Bechem, Christian Akem Dimala
BACKGROUND: Spina bifida and congenital talipes equinovarus (CTEV) are common congenital malformations which may occur together and increase morbidity. Monozygous twins are particularly at risk of these malformations and discordance in one type of malformation is typical. The occurrence of both spina bifida and CTEV in one twin of a monozygotic pair is rare. CASE PRESENTATION: A 22 year-old Cameroonian primigravida at 36 weeks of a twin gestation was received in our district hospital at the expulsive phase of labour on a background of sub-optimal antenatal care...
December 28, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29231776/ilizarov-technique-combined-with-limited-adjunctive-surgical-procedures-for-correction-of-relapsed-talipes-equinovarus-in-children
#11
Xiao-Jian Wang, Feng Chang, Yun-Xing Su, Xiao-Chun Wei, Lei Wei
Objective To evaluate the efficacy and safety of using the Ilizarov invasive distraction technique combined with limited surgical operations in the treatment of relapsed talipes equinovarus in children. Methods This retrospective study analysed the outcomes of paediatric patients with relapsed talipes equinovarus who were treated with the Ilizarov technique with moderate open limited soft tissue or bony operations. The International Clubfoot Study Group (ICFSG) classification system score was used to evaluate the deformities before and after surgery...
February 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29216694/-evidence-level-and-grade-of-recommendation-of-the-ponseti-method-for-arthrogryposis-related-syndromic-talipes-equinovarus-and-moebius-syndrome-a-systematic-review
#12
J J Guerra-Jasso, J A Valcarce-León, H M Quíntela-Núñez-Del Prado
BACKGROUND: Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually associated with arthrogryposis and Moebius syndrome with the latter two being more difficult to treat as they require aggressive surgery to achieve a plantigrade foot. We therefore ask what is the evidence level and grade of recommendation of the Ponseti method to treat syndromic talipes equinovarus resulting from arthrogryposis and Moebius syndrome...
July 2017: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/29199884/congenital-cavitary-optic-disc-anomaly-and-axenfeld-s-anomaly-in-wolf-hirschhorn-syndrome-a-case-report-and-review-of-the-literature
#13
Mohsin H Ali, Nathalie F Azar, Vinay Aakalu, Felix Y Chau, Javaneh Abbasian, Pete Setabutr, Irene H Maumenee
BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. MATERIALS/METHODS: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography...
April 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29172689/stress-fracture-of-the-fifth-metatarsal-in-foot-deformity-secondary-to-neuromuscular-disease-experiences-of-deformity-correction-treatment-a-report-of-3-cases-and-review-of-the-literature
#14
Jesús Payo-Ollero, Fernando Álvarez Goenaga, Gotzon Elorriaga Sagarduy, Alberto Ruiz Nasarre, Matías Alfonso Olmos-García, Carlos Villas Tomé
Fractures at the proximal metaphyso-diaphyseal junction of the fifth metatarsal are associated with high rates of delayed union. When these fractures are the result of repeated stress in patients with equinovarus hindfoot, which in turn is caused by neurological disorders, delayed union is the rule. Therefore, in neurological patients with stress fractures, optimal treatment would be to achieve a plantigrade foot enabling them to relieve the fifth metatarsal overload, which prevents the consolidation. We report 3 cases of fifth metatarsal stress fracture resulting from an equinovarus hindfoot deformity caused by a neuromuscular disease...
November 1, 2017: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/29156545/ultrasonographic-evaluation-of-botulinum-toxin-injection-site-for-the-medial-approach-to-tibialis-posterior-muscle-in-chronic-stroke-patients-with-spastic-equinovarus-foot-an-observational-study
#15
Alessandro Picelli, Alessio Baricich, Elena Chemello, Nicola Smania, Carlo Cisari, Marialuisa Gandolfi, Nicoletta Cinone, Maurizio Ranieri, Andrea Santamato
The tibialis posterior muscle is a frequent target for injection of botulinum toxin during the management of spastic equinovarus foot in adults with post-stroke spasticity. Although it is deep-seated, the needle insertion into the tibialis posterior muscle is usually performed using anatomical landmarks and safety information obtained from healthy subjects and cadavers. Our aim was to evaluate the botulinum toxin injection site for the medial approach to the tibialis posterior muscle in chronic stroke patients with spastic equinovarus foot...
November 18, 2017: Toxins
https://www.readbyqxmd.com/read/29129314/tibiotalocalcaneal-arthrodesis-with-the-hindfoot-arthrodesis-nail-a-prospective-consecutive-series-from-a-single-institution
#16
Bing Howe Lee, Christopher Fang, Remesh Kunnasegaran, Gowreeson Thevendran
Tibiotalocalcaneal arthrodesis (TTCA) is a salvage procedure. We report a series of 20 patients who underwent TTCA using an intramedullary nail. Of the 20 patients, 7 (35%) had diabetes mellitus. The patient experiences and outcomes were analyzed. Their mean age was 61.1 (range 39 to 78) years. The minimum follow-up period was 13 (mean 28, range 13 to 49) months. Surgical indications included diabetic Charcot arthropathy in 7 (35%), hindfoot osteoarthritis in 10 (50%), and severe equinovarus deformity in 3 (15%)...
January 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#17
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28919208/genetics-of-clubfoot-recent-progress-and-future-perspectives
#18
REVIEW
Sulman Basit, Khalid I Khoshhal
Clubfoot or talipes equinovarus (TEV) is an inborn three-dimensional deformity of leg, ankle and foot. It results from structural defects of several tissues of foot and lower leg leading to abnormal positioning of foot and ankle joints. TEV can lead to long-lasting functional disability, malformation and discomfort if left untreated. Substantial progress has been achieved in the management and diagnosis of limb defects; however, not much is known about the molecular players and signalling pathways underlying TEV disorder...
February 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28892975/caudal-regression-syndrome-with-pressure-ulcers-of-the-foot-a-case-report
#19
Kosaku Yamamichi, Tsuyoshi Manabe, Tatsuya Uekihara
Caudal Regression Syndrome (CRS) is a rare disorder which consists of abnormalities in the lumbosacral spine, rectum, urinary system and lower limbs. These abnormalities also include orthopaedic deformities, such as hip dislocation, knee-flexion contracture with popliteal webbing and talipes equinovarus. Because of the rarity of this condition, few medical personnel are aware of it. Here, we present a case of CRS in a 15-year-old girl with pressure ulcers on the lateral malleolus and plantar surface of the foot, which had come into contact with the wheelchair footrest...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28879606/history-of-clubfoot-treatment-part-iii-twentieth-century-back-to-the-future
#20
REVIEW
Philippe Hernigou
Clubfoot is one of the most common congenital orthopaedic anomalies and was described by Hippocrates in the year 400 BC. From manipulation in antiquity to splint and plaster in the Renaissance the treatment had improved before tenotomy. Many surgical treatments were tested during the nineteenth and twentieth centuries and will be explained in this manuscript; however, the pathology still continues to challenge the paediatric orthopedic surgeon as it has a notorious tendency to relapse, irrespective of whether the foot is treated with conservative or operative means...
November 2017: International Orthopaedics
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