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https://www.readbyqxmd.com/read/28919208/genetics-of-clubfoot-recent-progress-and-future-perspectives
#1
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...
September 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28905199/early-prenatal-diagnosis-of-a-lumbo-costo-vertebral-syndrome
#2
Anda Ioana Pristavu, Cristina Furnica, Mona Mihaela Ifrim, Razvan Mihai Popovici
Lumbo-costo-vertebral syndrome (LCVS) is a rare type of lumbar hernia with associated abnormalities of the vertebral bodies, ribs, and trunk muscles. Only a few cases have been reported in the literature, all of which were diagnosed after birth. We present a case of LCVS diagnosed early in the second trimester of pregnancy using two- and three-dimensional ultrasound. In our case, the associated anomalies were: multiple costovertebral anomalies, lumbar hernia, anal imperforation, left hand supernumerary digit, and clubfoot...
September 13, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28902604/age-of-recurrence-in-idiopathic-clubfoot-treated-with-the-ponseti-method
#3
Rachel Goldstein, Alice Chu, Debra Sala, Wallace Lehman
OBJECTIVES: While studies of patients undergoing the Ponseti method for idiopathic clubfoot demonstrate excellent correction after initial treatment, recurrence can occur in more than half of the cases. Few studies have demonstrated the age at which recurrence typically occurs or if age at discontinuation of the foot ankle orthosis (FAO) is associated with risk for surgical intervention. METHODS: Patients with idiopathic clubfoot treated with the Ponseti method with greater than 3 years of follow-up were evaluated...
May 2017: Bulletin of the Hospital for Joint Diseases
https://www.readbyqxmd.com/read/28879606/history-of-clubfoot-treatment-part-iii-twentieth-century-back-to-the-future
#4
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...
September 6, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28875128/ponseti-method-treatment-of-neglected-idiopathic-clubfoot-preliminary-results-of-a-multi-center-study-in-nigeria
#5
Olayinka O Adegbehingbe, Adeoye J Adetiloye, Ladipo Adewole, Dennis U Ajodo, Nosirudeen Bello, Oluwadare Esan, Alex C Hoover, James Ior, Omolade Lasebikan, Owolabi Ojo, Anthony Olasinde, David Songden, Jose A Morcuende
AIM: To evaluate the effectiveness of the Ponseti method for initial correction of neglected clubfoot cases in multiple centers throughout Nigeria. METHODS: Patient charts were reviewed through the International Clubfoot Registry for 12 different Ponseti clubfoot treatment centers and 328 clubfeet (225 patients) met inclusion criteria. All patients were treated by the method described by Ponseti including manipulation and casting with percutaneous Achilles tenotomy as needed...
August 18, 2017: World Journal of Orthopedics
https://www.readbyqxmd.com/read/28866453/ponseti-method-is-superior-to-surgical-treatment-in-clubfoot-long-term-randomized-prospective-trial
#6
Martin Švehlík, Ulrike Floh, Gerhardt Steinwender, Matthias Sperl, Michael Novak, Tanja Kraus
Treatment of idiopathic clubfoot has shifted from extensive surgical release to conservative Ponseti method; however, randomized prospective trials to compare both methods are lacking. The goal of this study was to compare the long-term results of Ponseti method with those of surgery in terms of morphology, function, X-rays, overall health and gait. In 2001, a single center, prospective, randomized, and controlled trial with a parallel design was started. Twenty-four feet of 15 patients were randomly assigned to two groups: 12 feet each to a Ponseti and surgical group...
August 11, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28864264/a-self-reported-needs-assessment-survey-of-pediatric-orthopaedic-education-in-haiti
#7
Rameez A Qudsi, Heather J Roberts, Abhiram R Bhashyam, Elena Losina, Donald S Bae, Francel Alexis, George S Dyer
OBJECTIVE: The burden of musculoskeletal disease remains high in low-income countries, with a high rate of pediatric disease. Efforts continue for orthopedic education, but there is little guidance on local needs and desires. Our aim was to determine the specific content and modalities that would be most useful for pediatric orthopedic educational programs abroad, and we demonstrate a practical method of identifying country-specific educational deficits through a self-reported needs survey in Haiti...
August 29, 2017: Journal of Surgical Education
https://www.readbyqxmd.com/read/28858119/flatfoot-in-the-contralateral-foot-in-patients-with-unilateral-idiopathic-clubfoot-treated-using-the-foot-abduction-brace
#8
Yasuhiro Shirai, Kenjiro Wakabayashi, Ikuo Wada, Yoshiaki Tsuboi, Myongsu Ha, Takanobu Otsuka
While the foot abduction brace (FAB) plays an important role in the Ponseti method, the true function of the FAB in the treatment of idiopathic clubfoot remains unknown. In our clinical experience, we have noted that many patients with unilateral idiopathic clubfoot developed significant flatfoot in the contralateral foot during brace treatment. The purpose of this study was to investigate the natural history of the contralateral foot development during and after brace wear. We also discuss the effect of the FAB on the contralateral foot...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28852350/significance-of-pirani-score-at-bracing-implications-for-recognizing-a-corrected-clubfoot
#9
Mansoor Ali Khan, Muhammad Amin Chinoy, Rida Moosa, Syed Kamran Ahmed
BACKGROUND: The aim of clubfoot treatment by Ponseti method is to achieve a corrected foot, with at least 15° dorsiflexion and 70° abduction, and fit comfortably into a brace at the recommended setting. This study aimed to acknowledge the validity and reliability of the Pirani scoring system, while investigating if a corrected clubfoot has a Pirani score of zero. The study hypothesized that a corrected clubfoot may or may not have a Pirani score of zero. METHODS: 706 patients with clubfoot were treated by Ponseti's method of weekly manipulations and casting, from November 2011 to May 2016, at a tertiary care hospital, making a total of 1055 feet...
2017: Iowa Orthopaedic Journal
https://www.readbyqxmd.com/read/28840670/-adult-experience-with-the-tibialis-posterior-transposition-to-the-center-of-the-foot-in-neuromuscular-disease
#10
P Parra-Téllez, H Jiménez-López, E López-Gavito, J Vázquez-Escamilla
The transfer of the posterior tibial tendon to the center of the dorsum of the foot is a method used to achieve dorsiflexion in flaccid paralysis of the anterolateral leg muscles or muscular imbalance of clubfoot. OBJECTIVE: To describe functional results back to the surgical procedure for transposition of posterior tibial the center of the foot. MATERIAL AND METHODS: The study design was observational, descriptive, transversal, ambispective with a description of the world of work patients with impaired dorsiflexora foot muscles and impaired gait in the period January 2008 to December 2014...
March 2017: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/28828066/inferior-results-with-unilateral-compared-with-bilateral-brace-in-ponseti-treated-clubfeet
#11
C Sætersdal, J M Fevang, L B Engesæter
PURPOSE: The Ponseti method for treating clubfoot was introduced in Norway in 2003, and a cohort of children has been followed for 8 to 11 years. In a previous study, we found good results after follow-up of two to five years, with 3% rate of extensive surgery (posterior release or posteromedial release). During 8 to 11 years of follow-up, the rate of extensive surgery increased to 11%. The children had been treated with a bilateral brace or a unilateral brace. In this multicentre study we aimed to compare these two post-corrective treatment methods...
June 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28815864/interstitial-deletion-5p14-1-p15-2-and-5q14-3-q23-2-in-a-patient-with-clubfoot-blepharophimosis-arthrogryposis-and-multiple-congenital-abnormalities
#12
Burhan Balta, Murat Erdogan, Ayse B Ergul, Yavuz Sahin, Alper Ozcan
Interstitial deletions of the short and long arms of chromosome 5 are rare cytogenetic abnormalities. The 5p distal deletion is a genetic disorder characterized by a high-pitched cat-like cry, microcephaly, epicanthal folds, micrognathia, severe intellectual disability and motor delays. Previously, more than 46 patients with the 5q deletion have been reported. Here, we report de novo interstitial deletions involving 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with multiple congenital abnormalities, including blepharophimosis, arthrogryposis, short neck, round face, pelvic kidney, agenesis of the corpus callosum, and clubfoot...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815843/ilizarov-technique-and-limited-surgical-methods-for-correction-of-post-traumatic-talipes-equinovarus-in-children
#13
Xiao Jian Wang, Feng Chang, Yunxing Su, Bin Chen, Jie-Fu Song, Xiao-Chun Wei, Lei Wei
BACKGROUND: The objective of this study was to evaluate the efficacy and safety of using Ilizarov invasive distraction technique combined with limited surgical operations in the treatment of post-traumatic talipes equinovarus in children. METHODS: Eighteen cases of post-traumatic deformed feet in 15 patients who received the treatment of Ilizarov frame application, limited soft-tissue release or osteotomy were selected in this study. After removal of the frame, an ankle-foot orthosis was used continuously for another 6-12 months...
August 16, 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/28807869/a-novel-mutation-in-smoc1-and-variable-phenotypic-expression-in-two-patients-with-waardenburg-anophthalmia-syndrome
#14
Javad Jamshidi, Shokoufeh Abdollahi, Hamid Ghaedi, Elham Alehabib, Abbas Tafakhori, Somayeh Alinaghi, Marjan Chapi, Amir Hossein Johari, Hossein Darvish
Waardenburg anophthalmia syndrome (WAS) is a rare disorder that mostly affects the eyes and distal limbs. In the current study we reported two Iranian patients with WAS. The first case was a 26-year-old girl with unilateral anophthalmia, bilateral camptodactyly and clinodactyly in her hands, oligodactly in her left foot and syndactyly of the second to fifth toes in her right foot. She also had severe hearing loss in both ears. The second case was a 12-year-old boy with bilateral anophthalmia, camptodactyly in his right hand, oligodactyly in his foot, clubfoot, and cryptorchidism...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777274/a-long-term-follow-up-of-young-adults-with-idiopathic-clubfoot-does-foot-morphology-relate-to-pain
#15
Adam N Graf, Ken N Kuo, Nikhil T Kurapati, Joseph J Krzak, Sahar Hassani, Angela K Caudill, Ann Flanagan, Gerald F Harris, Peter A Smith
BACKGROUND: Individuals with clubfoot, treated in infancy with either the Ponseti method or comprehensive clubfoot release, often encounter pain as adults. Multiple studies have characterized residual deformity after Ponseti or surgical correction using physical exam, radiographs and pedobarography; however, the relationship between residual foot deformity and pain is not well defined. The purpose of the current study was 2-fold: (1) to evaluate the relationship between foot morphology and pain for young adults treated as infants for idiopathic clubfoot and (2) to describe and compare pedobarographic measures and outcome measures of pain and morphology among surgically treated, Ponseti treated, and typically developing feet...
August 2, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28742248/biallelic-col3a1-mutations-result-in-a-clinical-spectrum-of-specific-structural-brain-anomalies-and-connective-tissue-abnormalities
#16
Denise Horn, Eberhard Siebert, Ulrich Seidel, Imma Rost, Karin Mayer, Rami Abou Jamra, Diana Mitter, Uwe Kornak
Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3-year-old female with developmental delay the nonsense variant c.1282C>T, p.(Arg428*) was detected in combination the c.2057delC, p.(Pro686Leufs*105) frame shift variant. Both compound heterozygous variants were novel. This patient was born with bilateral clubfoot, joint laxity, and dysmorphic facial features. At the age of 2 years she developed an aneurysmal brain hemorrhage...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#17
REVIEW
Qiming Xu, Nan Wu, Lijia Cui, Zhihong Wu, Guixing Qiu
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities...
July 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28735429/history-of-club-foot-treatment-part-ii-tenotomy-in-the-nineteenth-century
#18
REVIEW
Philippe Hernigou, Nicolas Gravina, Damien Potage, Arnaud Dubory
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. Tenotomy was tested during the 19th century and will be explained in this manuscript; the introduction of subcutaneous tenotomy of the Achilles tendon had focused the attention of surgeons on the surgical treatment of clubfeet. While this operation was very successful in the correction of equinus deformities due to poliomyelitis, cerebral palsy, and old injuries, it was not a panacea for the patient with the congenital clubfoot...
July 22, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28718240/ponseti-technique-for-management-of-congenital-idiopathic-club-foot
#19
Muhammad Qaisar Shah, Alamzeb Khan, Muhammad Shoaib Zardad, Rizwana Iqbal, Sajjad Ahmed
BACKGROUND: Clubfoot or congenital talipes equinovarus, is a congenital deformity of the foot. It consists of cavus, adduction, varus and equinus. This is due to medial displacement of navicular and calcaneus around the talus. Talus is in equinus. Medial deviation of the head and neck of talus is due to force of calcaneus on talus. METHODS: This descriptive case series study was conducted at Orthopaedic unit, Ayub Teaching Hospital, Abbottabad from 1st August 2015 to 31st January 2016 to determine the frequency of idiopathic clubfoot correction, by using the Ponseti method...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28704304/arterial-tree-anomalies-in-patients-with-clubfoot-an-investigation-carried-out-at-soba-university-hospital
#20
Samir Shaheen, Mustafa E H Bahar, Almigdad H A Mohammed, Sara F A Elbadri, Ashok Johari
Vascular deficiencies and reduced perfusion of the anterior tibial artery and the dorsalis pedis artery were suggested as causes of congenital talipes equino varus (CTEV). In this study, we assessed the prevalence of arterial abnormalities in patients with CTEV (50 patients; 74 feet) compared with a normal control group (16 patients; 32 feet) by Doppler ultrasound and Ankle Brachial Index. The flow was normal in the control group and was deficient in 39.19% of clubfoot patients. In severe clubfoot cases, the deficiency was found to an extent of 76...
July 12, 2017: Journal of Pediatric Orthopedics. Part B
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