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Pes equinovarus

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https://www.readbyqxmd.com/read/30217754/hyperphosphatasia-with-mental-retardation-syndrome-type-4-in-two-siblings-expanding-the-phenotypic-and-mutational-spectrum
#1
Özlem Akgün Doğan, Gizem Ürel Demir, Can Koşukçu, Ekim Z Taskiran, Pelin Özlem Simsek-Kiper, Gülen Eda Utine, Mehmet Alikaşifoğlu, Koray Boduroğlu
Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, seizures, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins. Among these, PGAP3 mutations are associated with HPMRS type 4...
September 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29482203/management-of-gait-impairments-in-chronic-unilateral-upper-motor-neuron-lesions-a-review
#2
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...
June 1, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/28248538/possible-pathogenetic-mechanisms-and-new-therapeutic-approaches-of-pes-equinovarus
#3
REVIEW
M Ošťádal, J Lišková, D Hadraba, A Eckhardt
Idiopathic pes equinovarus (clubfoot) is a congenital deformity of the foot and lower leg defined as a fixation of the foot in plantar flexion, adduction, supination and varus. The deformity does not affect only the foot position, which is usually investigated by radiography, CT, micro-CT, MRI or ultrasound but logically influence the whole gait biomechanics. It is supposed, that clubfoot belongs to a group of fibroproliferative disorders whose origin and multi-hierarchical effect remain unknown. It has been suggested that fibroblasts and growth factors may be involved...
July 18, 2017: Physiological Research
https://www.readbyqxmd.com/read/26482725/use-of-tramadol-in-early-pregnancy-and-congenital-malformation-risk
#4
Bengt Källén, Margareta Reis
Only few studies exist regarding the risk of a teratogenic effect of tramadol when used in early pregnancy. Using the Swedish Medical Birth Register, women (deliveries in 1997-2013) who had reported the use of tramadol in early pregnancy were identified. Maternal characteristics and concomitant drug use were analyzed. Among 1,682,846 women (1,797,678 infants), 1751 (1776 infants) had used tramadol, 96 of the infants had a congenital malformation and 70 of them were relatively severe. The adjusted odds ratio for a relatively severe malformation was 1...
December 2015: Reproductive Toxicology
https://www.readbyqxmd.com/read/26152022/pentalogy-of-cantrell-accompanied-by-scoliosis-and-pes-equinovarus-deformity-at-12-weeks-gestation
#5
A Tazegül Pekin, O Seçilmiş Kerimoğlu, S A Yilmaz, A G Kebapcilar, B Gencoğlu Bakbak, C Celik
Cantrell's pentalogy (CP) is a rare syndrome characterized by defects in the lower sternum with ectopia cordis, anterior diaphragm defects, midline supraumbilical abdominal wall defects, defects in the diaphragmatic pericardium, and congenital heart disease. The authors report a 12-weeks gestation with multiple fetal anomalies suggesting the diagnosis of CP (a large thoraco-abdominal defect with herniating liver and bowel, heart deviated anteriorly with concomitant ventricular septal defect), and the 'S' shaped fetal spine due to increased lumbar lordosis and scoliosis with accompanying pes equinovarus deformity...
2015: Clinical and Experimental Obstetrics & Gynecology
https://www.readbyqxmd.com/read/26078652/a-case-of-campomelic-dysplasia-in-whom-a-new-mutation-was-found-in-the-sox9-gene
#6
Kadri Karaer, Zafer Yüksel, Esin Yalınbaş, Gerd Scherer
Campomelic dysplasia (CD, OMIM #114290) is a rare autosomal dominant disease characterized with bending and shortness in the long bones of the lower extremities, typical facial features, hypoplastic scapula, costa defect, narrow thorax and pes equinovarus. Campomelic dysplasia occurs with heterozygous mutations in the SOX9 gene in the 17q24 chromosome. The main findings of our four-day old patient included typical facial features, risomelic extremity shortness, angular bending in the long bones of bilateral lower extremities and pes equinovarus...
June 2014: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/26066342/alg8-cdg-novel-patients-and-review-of-the-literature
#7
REVIEW
Michaela Höck, Karina Wegleiter, Elisabeth Ralser, Ursula Kiechl-Kohlendorfer, Sabine Scholl-Bürgi, Christine Fauth, Elisabeth Steichen, Karin Pichler, Dirk J Lefeber, Gert Matthjis, Liesbeth Keldermans, Kathrin Maurer, Johannes Zschocke, Daniela Karall
BACKGROUND: Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported representing an expanding group of inherited disorders. ALG8-CDG (= CDG-Ih) is one of the less frequently reported types of CDG, maybe due to its severe multi-organ involvement with coagulation disturbances, edema, massive gastrointestinal protein loosing enteropathy, cataracts, and often early death. We report three additional patients, provide an update on two previously reported, and summarize features of ten patients reported in literature...
2015: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/25922618/clinical-cytogenetic-and-molecular-study-of-a-case-of-ring-chromosome-10
#8
Živilė Čiuladaitė, Birutė Burnytė, Danutė Vansevičiūtė, Evelina Dagytė, Vaidutis Kučinskas, Algirdas Utkus
Ring chromosome 10 is a rare cytogenetic finding. Only a few cases with molecular cytogenetic definition have been reported. We report here on a child with a ring chromosome 10, which is associated with prenatal and postnatal growth retardation, microcephaly, dysmorphic features, hypotonia, heart defect, severe pes equinovarus, and bronchial asthma. The chromosomal aberration was defined by chromosome microarray analysis, which revealed two deletions at 10pter (3.68 Mb) and 10qter (4.26 Mb). The clinical features are very similar to those reported in other clinical cases with ring chromosome 10, excluding bronchial asthma, which has not been previously reported in individuals with ring chromosome 10...
2015: Molecular Cytogenetics
https://www.readbyqxmd.com/read/25851783/the-unprecedented-recurrent-diploid-tetraploid-mosaicism-of-trisomy-18-mixoploidy-4n-18-2n-18-clinical-report
#9
Sibel Ozler, Ali O Ersoy, Efser Oztas, Vehap Topcu, Sevki Celen, Nuri Danisman
We report on a 32-year-old woman who presented at gestational age of 14 weeks. During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad nose), heart defects (single atrium, single ventricle), agenesis of corpus callosum, limb defects (clenched hands, pes equinovarus). Chorionic villus sampling and karyotyping revealed diploid/tetraploid mosaicism with trisomy 18 (mixoploidy; 4n+18/2n+18). Her second pregnancy was terminated because of the same clinical manifestations 1 year prior...
July 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/25610681/talectomy-for-equinovarus-deformity-in-family-members-with-hereditary-motor-and-sensory-neuropathy-type-i
#10
Hristo Georgiev, Georgi P Georgiev
The treatment of severe rigid neurogenic clubfoot deformities still remains a challenging problem in modern paediatric orthopaedics. In those cases, in spite of being a palliative procedure, talectomy has been advocated for the correction of the deformity thus providing a stable plantigrade foot which allows pain-free walking with standard footwear. Herein, we present the results after talectomy in two patients (brother and sister) affected by a hereditary motor and sensory neuropathy type I, with rigid severe pes equinovarus deformities...
2014: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/25543527/foetal-axillary-lymphangioma-with-ipsilateral-pes-equinovarus-pitfalls-in-sonographic-differential-diagnosis-axillary-lymphangioma-pes-equinovarus
#11
Yesim Bulbul Baytur, Burcu Artunc Ulkumen, Halil Gursoy Pala
Lymphangiomas are rare congenital malformations of the lymphatic system. Despite the benign histology, they are likely to grow rapidly and invade the surrounding tissues. In contrast to the cystic hygromas, lymphangiomas at the axillary region tend to have normal karyotype. However, associated hydrops makes the prognosis poor. Due to isolated few cases in the literature, the true incidence of foetal axillary lymphangiomas is not known. We present here a pre-natal ultrasonographic diagnosis of a 15-week foetus with rapidly growing axillary lymphangioma with ipsilateral foot abnormality which had normal karyotype...
2015: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/25472880/proteomic-analysis-of-the-extracellular-matrix-in-idiopathic-pes-equinovarus
#12
Martin Ošt'ádal, Adam Eckhardt, Jan Herget, Ivan Mikšík, Pavel Dungl, Jiří Chomiak, Monika Frydrychová, Michal Burian
Idiopathic pes equinovarus is a congenital deformity of the foot and lower leg defined as a fixation of the foot in adduction, supination, and varus. Although the pathogenesis of clubfoot remains unclear, it has been suggested that fibroblasts and growth factors are involved. To directly analyze the protein composition of the extracellular matrix in contracted tissue of patients with clubfoot. A total of 13 infants with idiopathic clubfoot treated with the Ponseti method were included in the present study. Tissue samples were obtained from patients undergoing surgery for relapsed clubfeet...
March 2015: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/24886611/hypomelanosis-of-ito-presenting-with-pediatric-orthopedic-issues-a-case-report
#13
Malene Trägårdh, Christine Rohr Thomsen, Rikke Thorninger, Bjarne Møller-Madsen
INTRODUCTION: Hypomelanosis of Ito was originally described as a purely cutaneous disease. Extracutaneous manifestations were described later, forming a neurocutaneous syndrome including skeletal, muscular, ocular and central nervous system symptoms.Hypomelanosis of Ito is characterized by a depigmentation along the lines of Blaschko on the trunk and extremities in certain patterns.The aim of this article was to report another case and give an overview of the related orthopedic symptoms that have been previously described...
2014: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/24787313/congenital-constriction-band-syndrome-with-limb-defects
#14
Eeva Koskimies, Johanna Syvänen, Yrjänä Nietosvaara, Outi Mäkitie, Niklas Pakkasjärvi
BACKGROUND: The purpose of this study was to clarify the spectrum of congenital constriction band syndrome (CBS) and associated anomalies and mortality in Finland. METHODS: Register-based data were analyzed for children with congenital constriction bands in upper and lower extremities as a part of an ongoing study on 419 upper limb defects and 171 lower limb defects occurring among 753,342 births in Finland during 1993 to 2005. RESULTS: A total of 71 cases with limb CBS were identified during the 13-year study period...
January 2015: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/24754350/early-botulinum-toxin-treatment-for-spastic-pes-equinovarus-a-randomized-double-blind-placebo-controlled-study
#15
RANDOMIZED CONTROLLED TRIAL
U M Fietzek, P Kossmehl, L Schelosky, G Ebersbach, J Wissel
BACKGROUND AND PURPOSE: Spastic pes equinovarus is a frequent pathological posture of the lower extremity. Botulinum toxin (BoNT/A) has been successfully applied to treat lower limb spasticity. However, the best time to initiate treatment remains unclear. A beneficial effect of an early treatment has been suggested in previous studies. METHODS: A single-centre double-blind randomized placebo-controlled trial was performed to investigate the efficacy of BoNT/A to reduce muscle hypertonicity at the ankle...
August 2014: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/24075135/the-intoeing-child-etiology-prognosis-and-current-treatment-options
#16
REVIEW
Edwin Harris
Intoeing, a common entrance complaint in infants, toddlers, and young children, is best defined as internal rotation of the long axis of the foot to the line of progression. Intoeing may be caused by primary deformities within the foot, issues with tibial torsion, and femoral antetorsion (anteversion). Problems within the foot include hallux varus, metatarsus adductus, talipes equinovarus, and pes cavus, each of which has specific treatments available. Treatment must be individualized, and the risks and complications weighed against the predictable morbidity of intoeing...
October 2013: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/23978710/the-talonavicular-and-subtalar-joints-the-calcaneopedal-unit-concept
#17
REVIEW
R Seringe, P Wicart
The talonavicular (TN) joint and the three subtalar (ST) joints are linked anatomically and functionally. Together they form the subtalar joint complex, where movement occurs between the calcaneopedal unit (CPU) (entire foot except the talus) and the talotibiofibular unit (talus held tightly by the ankle mortise). Many are unaware of the TN joint's dual membership: it is a component of the subtalar joint complex (talocalcaneonavicular joint) and also the transverse tarsal joint (with the calcaneal-cuboid joint)...
October 2013: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/23917854/comparison-of-the-short-term-and-long-term-results-of-the-ponseti-method-in-the-treatment-of-idiopathic-pes-equinovarus
#18
COMPARATIVE STUDY
Martin Ošťádal, Jiri Chomiak, Pavel Dungl, Monika Frydrychová, Michal Burian
PURPOSE: Congenital club foot is one of the most common birth defects involving the musculoskeletal system. At present two methods are used for the treatment of this deformity: French and Ponseti method. The purpose of this study was to compare the short-term (up to three years) and long-term (three to seven years) results of treatment with the Ponseti method. METHODS: A total of 195 consecutive infants (143 boys and 52 girls) with idiopathic club foot treated with the Ponseti method in the period of 2005-2012 were included in this study; the total number of feet was 303...
September 2013: International Orthopaedics
https://www.readbyqxmd.com/read/23830167/posterior-tibial-tendon-transfer-in-the-spastic-brain-damaged-adult-does-not-lead-to-valgus-flatfoot
#19
COMPARATIVE STUDY
D Gasq, F Molinier, N Reina, P Dupui, P Chiron, P Marque
BACKGROUND: We studied the possible development of valgus flat foot after transfer of the posterior tibial tendon to the lateral cuneiform, used for surgical restoration of dorsiflexion in brain-damaged adult patients with spastic equinovarus foot. METHODS: Twenty hemiplegic patients were reviewed with a mean postoperative follow-up of 57.9 months. Weightbearing radiographs, static baropodometry analysis and functional evaluation were used to assess postoperatively outcomes...
September 2013: Foot and Ankle Surgery: Official Journal of the European Society of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/23260367/flatfoot-in-children-and-adolescents-analysis-of-imaging-findings-and-therapeutic-implications
#20
C Bourdet, R Seringe, C Adamsbaum, C Glorion, P Wicart
INTRODUCTION: Pes planovalgus (PPV) is a complex three-dimensional deformity of which routine radiographs provide only a two-dimensional analysis. HYPOTHESIS: Angles and other radiographic parameters of the foot in children and adolescents, when studied on both the dorsoplantar and the lateral view, can be used to establish a radiographic classification system for PPV that provides useful therapeutic guidance in clinical practice. MATERIALS AND METHODS: A retrospective single-centre study was conducted on 65 feet in 35 patients aged 7 to 18 years and having adequate ossification...
February 2013: Orthopaedics & Traumatology, Surgery & Research: OTSR
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