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Cavus Foot, from Neonates to Adolescents
Orthopaedics & Traumatology: Surgery & Research (2012) 98, 813—828 Available online at www.sciencedirect.com REVIEW ARTICLE ଝ Cavus foot, from neonates to adolescents P. Wicart Paris Descartes University, Necker—Sick Children Hospital (AP—HP), 149, rue de Sèvres, Paris 75015, France Accepted: 10 July 2012 KEYWORDS Summary Pes cavus, defined as a high arch in the sagittal plane, occurs in various clinical situa- Pes cavus; tions. A cavus foot may be a variant of normal, a simple morphological characteristic, seen in Charcot-Marie-Tooth healthy individuals. Alternatively, cavus may occur as a component of a foot deformity. When it disease; is the main abnormality, direct pes cavus should be distinguished from pes cavovarus. In direct Neurology; pes cavus, the deformity occurs only in the sagittal plane (in the forefoot, hindfoot, or both). Morphological types Direct pes cavus may be related to a variety of causes, although neurological diseases predom- inate in posterior pes cavus. Pes cavovarus is a three-dimensional deformity characterized by rotation of the calcaneopedal unit (the foot minus the talus). This deformity is caused by palsy of the intrinsic foot muscles, usually related to Charcot-Marie-Tooth disease. The risk of pro- gression during childhood can be eliminated by appropriate conservative treatment (orthosis to realign the foot). Extra-articular surgery is indicated when the response to orthotic treatment is inadequate. Muscle transfers have not been proven effective. Triple arthrodesis (talocalcanear, talonavicular, and calcaneocuboid) accelerates the mid-term development of osteoarthritis in the adjacent joints and should be avoided. © 2012 Published by Elsevier Masson SAS. Introduction The cavus may be either one of the components or the main component of the deformity (Tables 1 and 2). -
Etiology and Treatment of Congenital Vertical Talus: a Clinical Review Seema Sehmi
REVIEW ARTICLE Etiology and Treatment of Congenital Vertical Talus: A Clinical Review Seema Sehmi ABSTRACT Congenital vertical talus is a rare rigid flat foot deformity. Although the cause of the congenital vertical talus is heterogeneous, recent researches strongly support a genetic cause linking the genes expressed during early limb development. If remain untreated, it causes a lot of disability like pain and functional limitations. Traditional treatment for vertical talus involves extensive surgeries, which are associated with short and long complications. A minimally invasive approach involving serial manipulation and casting will produce excellent short-term results with regard to clinical and radiographic correction. To achieve correction without extensive surgery leading to more flexible and functional foot, a long-term research study is required. Keywords: Clinical, Congenital, Limb, Talus. AMEI’s Current Trends in Diagnosis & Treatment (2020): 10.5005/jp-journals-10055-0102 INTRODUCTION Department of Anatomy, Sri Guru Ram Das Institute of Medical The ankle joint complex involves articulation of talus with tibia and Sciences and Research, Vallah (Amritsar), Punjab, India fibula.1 The movements of the ankle joint are plantar flexion and Corresponding Author: Seema Sehmi, Department of Anatomy, dorsiflexion in sagittal plane and abduction and adduction in the 2 Sri Guru Ram Das Institute of Medical Sciences and Research, Vallah coronal plane. Talus also articulates with plantar calcaneonavicular (Amritsar), Punjab, India, Phone: +91 9914754354, e-mail: drseema16@ 3 ligament and calcaneus to form talocalcaneonavicular joint. gmail.com Congenital vertical talus is a rare foot deformity, which is How to cite this article: Sehmi S. Etiology and Treatment of Congenital characterized by hindfoot valgus and equinus, with associated Vertical Talus: A Clinical Review. -
Genetic, Cytogenetic and Physical Refinement of the Autosomal Recessive CMT Linked to 5Q31ð Q33: Exclusion of Candidate Genes I
European Journal of Human Genetics (1999) 7, 849–859 © 1999 Stockton Press All rights reserved 1018–4813/99 $15.00 t http://www.stockton-press.co.uk/ejhg ARTICLE Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1 Ang`ele Guilbot1, Nicole Ravis´e1, Ahmed Bouhouche6, Philippe Coullin4, Nazha Birouk6, Thierry Maisonobe3, Thierry Kuntzer7, Christophe Vial8, Djamel Grid5, Alexis Brice1,2 and Eric LeGuern1,2 1INSERM U289, 2F´ed´eration de Neurologie and 3Laboratoire de Neuropathologie R Escourolle, Hˆopital de la Salpˆetri`ere, Paris 4Laboratoire de cytog´en´etique, Villejuif 5G´en´ethon, Evry, France 6Service de Neurologie, Hˆopital des Sp´ecialit´es, Rabat, Morocco 7Service de Neurologie, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland 8Service D’EMG et de pathologie neuromusculaire, Hˆopital neurologique Pierre Wertheimer, Lyon, France Charcot-Marie-Tooth disease is an heterogeneous group of inherited peripheral motor and sensory neuropathies with several modes of inheritance: autosomal dominant, X-linked and autosomal recessive. By homozygosity mapping, we have identified, in the 5q23–q33 region, a third locus responsible for an autosomal recessive form of demyelinating CMT. Haplotype reconstruction and determination of the minimal region of homozygosity restricted the candidate region to a 4 cM interval. A physical map of the candidate region was established by screening YACs for microsatellites used for genetic analysis. Combined genetic, cytogenetic and physical mapping restricted the locus to a less than 2 Mb interval on chromosome 5q32. Seventeen consanguineous families with demyelinating ARCMT of various origins were screened for linkage to 5q31–q33. -
Ultrasound Anomaly Details
Appendix 2. Association of Copy Number Variants With Specific Ultrasonographically Detected Fetal Anomalies Ultrasound Anomaly Details Abdominal wall Bladder exstrophy Body-stalk anomaly Cloacal exstrophy Gastroschisis Omphalocele Other: free text box CNS Absent cerebellar vermis Agenesis of corpus collosum Anencephaly Arachnoid cyst Cerebellar hypoplasia Chiari malformation Dandy-Walker malformation Encephalocele Anterior Posterior Holoprosencephaly Hydranencephaly Iniencephaly Lissencephaly Parenchymal defect Posterior fossa cyst Spina bifida Vascular anomaly Ventriculomegaly/Hydrocephaly Unilateral Mild (10-12mm) Moderate (13-15mm) Severe (>15mm) Bilateral Mild (10-12mm) Moderate (13-15mm) Severe (>15mm) Other: free text box Ear Outer ear malformation Unilateral Bilateral Other: free text box Effusion Hydrops Single effusion only Ascites Pericardial effusion Pleural effusion Skin edema Donnelly JC, Platt LD, Rebarber A, Zachary J, Grobman WA, and Wapner RJ. Association of copy number variants with specific ultrasonographically detected fetal anomalies. Obstet Gynecol 2014;124. The authors provided this information as a supplement to their article. © Copyright 2014 American College of Obstetricians and Gynecologists. Page 1 of 6 Other: free text box Fac Eye anomalies Cyclopia Hypertelorism Hypotelorism Microphthalmia Other: free text box Facial tumor Lip - Cleft Unilateral Midline Bilateral Nose Absent / hypoplastic nose bone Depressed nasal bridge Palate – Cleft Profile -
Clinical and Genetic Findings of Two Cases with Apert Syndrome
BoletínMédicodel HospitalInfantildeMéxico CLINICALCASE ClinicalandgeneticfindingsoftwocaseswithApertsyndrome Francisco Cammarata-Scalisi1*, Elanur Yilmaz2, Michele Callea3, Andrea Avendaño1, Ercan Mıhçı4 and Ozgul M. Alper2 © Permanyer 2019 1 2 Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela; Department of Medical . Biology and Genetics, Akdeniz University Medical School, Antalya, Turkey; 3Unit of Dentistry, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy; 4Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey of the publisher Abstract Background: Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype. Case report: Two unrelated female patients with clinical findings of Apert syndro- me—characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted pal- pebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet—are present. In both patients, a heterozygous missense mutation (c.755C>G, p.Ser252Trp) in the FGFR2 gene was identified. Conclusions: Two cases of Apert syndrome are described. It is important to recognize this uncommon entity through clinical findings, highlight interdisciplinary medical evaluation, and provide timely genetic counse- ling for the family. Key words: Apert syndrome. Clinical. FGFR2 -
REVIEW ARTICLE Congenital Convex Pes Valgus
Acta Orthop. Belg., 2007, 73, 366-372 REVIEW ARTICLE Congenital convex pes valgus (congenital vertical talus) The condition and its treatment : A review of the literature Bart H. BOSKER, Jon H. M. GOOSEN, René M. CASTELEIN, Adriaan K. MOSTERT From the Isala Klinieken, Weezenlanden Hospital, Zwolle, The Netherlands and the University Medical Center Utrecht, Utrecht, The Netherlands Much discussion exists about the best operative tech- al dislocation of the talocalcaneonavicular joint” nique to treat congenital convex pes valgus. In this more accurately directs attention to pathogenesis article a table of surgical approaches and an algo- and therapeutic implications (13). Anatomical fea- rithm, based upon literature review, are presented. tures of the deformity are a dislocated talonavicular In our opinion the technique of choice in a child joint, with the navicular bone lying dorsally on the younger than 2 years of age is extensive release with neck of the talus. The talus itself lies in a plantar lengthening of tendons and fixation procedures. In a child over 2 years of age, extensive release with and medial position, almost vertically directed. The tendon transfer is the preferred procedure. When head of the talus produces a prominence on the this procedure has failed, naviculectomy with exten- medial side ; clinically the calcaneus produces a sive release and tendon transfer, or subtalar / triple rocker bottom on the sole of the foot. The forefoot arthrodesis must be considered. is dorsiflexed, abducted and everted at the mid- tarsal joint, and the hind foot is fixed in plantar Keywords : congenital convex pes valgus ; treatment ; flexion. algorithm ; literature review. -
Tumor in Patients with 9Q22.3 Microdeletion Syndrome Suggests a Role for PTCH1 in Nephroblastomas
European Journal of Human Genetics (2013) 21, 784–787 & 2013 Macmillan Publishers Limited All rights reserved 1018-4813/13 www.nature.com/ejhg SHORT REPORT Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas Bertrand Isidor*,1,2,14, Franck Bourdeaut3,4,5,14, Delfine Lafon6, Ghislaine Plessis7, Elodie Lacaze7, Caroline Kannengiesser8, Sylvie Rossignol9, Olivier Pichon1, Annaig Briand1, Dominique Martin-Coignard10, Maria Piccione11, Albert David1, Olivier Delattre2,Ce´cile Jeanpierre12, Nicolas Se´venet6 and Ce´dric Le Caignec1,13 Nephroblastoma (Wilms’ tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalities predisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15 region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith–Wiedemann, Simpson–Golabi–Behmel and Perlman syndromes, respectively. However, the underlying cause of WT remains unknown in the majority of cases. We report three unrelated patients who presented with WT in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowth syndrome. The size of the deletions was variable (ie, from 1.7 to 8.9 Mb) but invariably encompassed the PTCH1 gene. Subsequently, we identified a somatic PTCH1 nonsense mutation in the renal tumor of one patient. In addition, by array comparative genomic hybridization method, we analyzed the DNA extracted from the blood samples of nine patients with overgrowth syndrome and WT, but did not identify any deleterious chromosomal imbalances in these patients. These findings strongly suggest that patients with constitutional 9q22.3 microdeletion have an increased risk of WT, and that PTCH1 have a role in the pathogenesis of nephroblastomas. -
Common Anomalies Associated To
ISSN: 2643-3885 Muhsin. Int J Foot Ankle 2018, 2:013 Volume 2 | Issue 2 Open Access International Journal of Foot and Ankle RESEARCH ARTICLE Common Anomalies Associated To Congenital Vertical Talus: A Single Center Experience Elmas Muhsin* Check for Department of Medical Genetic, Afyon Kocatepe University, Turkey updates *Corresponding author: Elmas Muhsin, Department of Medical Genetic, Afyon Kocatepe University, Afyonkarahisar, Turkey vicular. The incidence is estimated to be one in 10,000. Abstract Approximately half of all cases (idiopathic) are associ- Background: Congenital vertical talus is defined as a foot deformity in which the calcaneus is in equinus, the talus is ated with deformity and 2-5 neuromuscular and genet- plantarflexed, and there is a rigid and irreducible dislocation ic disorders in the remaining cases. There is evidence of the talonavicular joint complex, with the navicular articu- that some isolated deformities are transmitted as an lating on the dorsolateral aspect of the talar neck. It is often autosomal dominant feature with incomplete pene- associated with systemic involvement. trance [1-4]. The deformity is also known by congenital Aims: To identify the most common anomalies accompany- “rocker-bottom” flatfoot because of its rigid deformity ing to CVT (Congenital Vertical Talus). No literature investi- gating similar clinical data was found in the literature review. with the forefoot dorsiflexed and the hindfoot plantar- Study design: CVT has a systemic effect and is accom- flexed. The term “congenital convex pes valgus” is also panied by many anomalies. At the same time as this study, frequently used. To make a definite diagnosis, it is im- anomalies were frequently found accompanying CVT. -
Pes Cavus – Not Just a Clinical Sign Diagnosis, Aetiology and Management
ACNRJF13_Layout 1 13/01/2013 22:33 Page 16 REHABILITATION ARTICLE Pes Cavus – Not Just a Clinical Sign Diagnosis, Aetiology and Management Mr Thomas Ball, he term Pes cavus describes the deformity of Figure 1 MRCS, MRCP, MA(Cantab) is a Specialty Registrar in Trauma a high arched, relatively stiff foot. It has a and Orthopaedics in the South T variety of neurological and other causes. West Peninsula, currently working Management depends on the aetiology, rapidity of at Royal Cornwall Hospital. He progression and the severity of symptoms. aims to specialise in foot and ankle surgery and correction of lower limb deformity. Definition Pes cavus is an umbrella term describing a spec- trum of foot shapes with a high arch.1 Pure Pes cavus occurs when the metatarsal bones are plan- tarflexed relative to the hindfoot – described as ‘forefoot plantaris’ – which increases the height and curvature of the medial longitudinal arch (Figure 1). When the patient weight-bears, the hindfoot is pushed into dorsiflexion by the plan- tarflexed forefoot (Figure 2). Mr Michael Butler, A high arch accompanied by a medially angu- MA MB BS FRCS (TR&Orth) lated heel is termed pes cavovarus (Figure 3). is a Consultant Orthopaedic Surgeon and Foot and Ankle When this is complicated by foot drop and Specialist at the Royal Cornwall equinus of the ankle, it is described as pes Hospital in Truro and is a regular equinocavovarus. A n o t h e r va r i a n t , pes calcaneo- officer in the Army. Mr Butler varus, occurs when the primary deformity is treats patients for complex excessive ankle and hindfoot dorsiflexion; in problems of the foot and ankle Box 1: Causes of Pes cavus and is a Review Board Member for order to place the foot flat on the ground, the fore- Foot and Ankle Surgery. -
A Rare Intermetatarsal Coalition with Rigid Fifth Metatarsal Deformity and Symptomatic Plantar Lesion
The Journal of Foot & Ankle Surgery xxx (2015) 1–6 Contents lists available at ScienceDirect The Journal of Foot & Ankle Surgery journal homepage: www.jfas.org Case Reports and Series A Rare Intermetatarsal Coalition With Rigid Fifth Metatarsal Deformity and Symptomatic Plantar Lesion Antonio Cordoba-Fern andez, DP, PhD 1, Rafael Rayo-Rosado, DP, PhD 2, Daniel Lopez-Garc ıa, DP 3, Jose MarıaJuarez-Jim enez, DP, PhD 2 1 Professor of Podiatric Surgery, Department of Podiatry, Universidad de Sevilla, Sevilla, Spain 2 Assistant Professor, Department of Podiatry, Universidad de Sevilla, Sevilla, Spain 3 Private Practice, Jerez de la Frontera, Spain article info abstract Level of Clinical Evidence: 4 Coalition or synostosis of the foot is a relatively uncommon abnormality. Some cases of synostosis of the foot, primarily involving the midfoot and hindfoot, have been reported. However, intermetatarsal coalition is Keywords: bone bridge extremely rare, with only a small number of cases reported. We report a case of a unilateral, congenital fi metatarsal coalition metatarsal coalition between the fourth and fth metatarsal bones in a 27-year-old female. She had initially oblique metatarsal osteotomy been referred because of a symptomatic plantar lesion under the fifth metatarsal head. Surgery consisted of synostosis separating the affected metatarsals, combined with a proximal osteotomy, which proved successful in establishing pain-free and more natural weightbearing. Ó 2015 by the American College of Foot and Ankle Surgeons. All rights reserved. Congenital coalitions of the foot are relatively uncommon abnor- malities and occur in approximately 1% of the population (1). Talo- calcaneal and calcaneonavicular are the most common types of coalitions. -
Congenital Anomalies of the Upper Extremity
I have no disclosures Provide an overview of the spectrum of congenital upper extremity anomalies Describe the key imaging findings of these abnormalities Discuss the important clinical features of these entities Not enough bones (deficiencies) Extra bones Fusion/failure of separation Malalignment Abnormal bone morphology Big bones/soft tissues Not enough bones (deficiencies) Extra bones Fusion/failure of separation Malalignment Abnormal bone morphology Big bones/soft tissues Phocomelia: deficiency/absence of the proximal-mid extremity Autosomal recessive › ESCO2 gene involved in chromosome separation Rare; 150 cases reported All extremities affected Multisystem disorder Absent radii, (near) normal thumbs Possibly more extensive upper limb and even lower limb deficiencies Autosomal recessive, 1q21.1, 1:1,000,000 Thrombocytopenia › Severe at birth; bleeding complications › Transfusion requirements decrease by age 1 › Normalization of platelet count by adulthood Radial anomaly most commonly limited to the thumb Autosomal dominant 12q24.1, 1:100,000 Cardiac manifestations › Septal defects (atrial most common) › Pulmonic stenosis Vertebral Anal Cardiac Tracheoesophageal fistula Esophageal atresia RADIAL/Renal Limb incidence 16/100,000 Tend to be associated with other non- MSK abnormalities/syndromes Goldfarb et al. (2006) › Reviewed 56 years of surgical data (Wash U) › 146 patients with radial deficiencies › 55 syndromic Goal is to preserve thumb function to be able to perform basic functions (i.e., grab objects, -
Appendix 3.1 Birth Defects Descriptions for NBDPN Core, Recommended, and Extended Conditions Updated March 2017
Appendix 3.1 Birth Defects Descriptions for NBDPN Core, Recommended, and Extended Conditions Updated March 2017 Participating members of the Birth Defects Definitions Group: Lorenzo Botto (UT) John Carey (UT) Cynthia Cassell (CDC) Tiffany Colarusso (CDC) Janet Cragan (CDC) Marcia Feldkamp (UT) Jamie Frias (CDC) Angela Lin (MA) Cara Mai (CDC) Richard Olney (CDC) Carol Stanton (CO) Csaba Siffel (GA) Table of Contents LIST OF BIRTH DEFECTS ................................................................................................................................................. I DETAILED DESCRIPTIONS OF BIRTH DEFECTS ...................................................................................................... 1 FORMAT FOR BIRTH DEFECT DESCRIPTIONS ................................................................................................................................. 1 CENTRAL NERVOUS SYSTEM ....................................................................................................................................... 2 ANENCEPHALY ........................................................................................................................................................................ 2 ENCEPHALOCELE ..................................................................................................................................................................... 3 HOLOPROSENCEPHALY.............................................................................................................................................................