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Madelung deformity

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https://www.readbyqxmd.com/read/29510891/lunate-grafting-into-the-radius-for-lunate-fossa-reconstruction-in-madelung-deformity
#1
Ricardo Kaempf de Oliveira, Pedro José Delgado, Samuel Ribak, Jayme Augusto Bertelli, Fabiano da Silva Marques
A 40-year-old woman presented with Madelung deformity and severe arthritic changes at both the radiocarpal and the distal radioulnar joints. She was treated by using her lunate as an osteochondral graft into the radius allowing reconstruction of the lunate fossa. The scaphoid and triquetrum were removed concomitantly and a Sauve-Kapandji procedure was performed. Complete bone healing was achieved. Ten years later, an excellent functional result was maintained, with a pain-free wrist, an acceptable wrist joint range of motion, as well as a favorable aesthetic appearance...
March 3, 2018: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29469136/acute-lymphoblastic-leukemia-in-a-child-with-leri-weill-syndrome-and-complete-shox-gene-deletion-a-case-report
#2
Jana Volejnikova, Jirina Zapletalova, Marie Jarosova, Helena Urbankova, Vojta Petr, Eva Klaskova, Marshall S Horwitz, Marian Hajduch, Vladimir Mihal
BACKGROUND: Leri-Weill syndrome (LWS) ranks among conditions with short stature homeobox gene (SHOX) haploinsufficiency. Data on possible association of SHOX aberrations with malignant diseases are scarce. METHODS AND RESULTS: We report a unique case of an 8-year-old girl who was successfully treated for acute lymphoblastic leukemia (pre-B ALL, intermediate risk) and was subsequently diagnosed with LWS due to characteristic clinical appearance (short disproportionate stature, Madelung deformity of the wrist) and molecular genetic examination (complete deletion of SHOX)...
February 21, 2018: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/29457425/-progress-on-research-of-madelung-s-deformity
#3
REVIEW
Yu-Xin Song, Zeng-Ping Wang, Lin Liu, Wen Xue, Zhong-Yu Hao, Qun-Li Zhang, Wei She, Li-Yang Cai, Hai-Tao Gou, Yao-Wen Qian
Madelung deformity is a rare deformity of forearm and wrist caused by growth disorders of distal radius ulnar and palmar epiphyseal. Current studies showed that its incidence mainly associated with trauma, epiphyseal developmental abnormalities, nutritional disorders and genetic deletion or mutation. The early clinical presentation is not typical, in middle and late time, wrist deformity and weak can appear. Plain film considered as the main means of diagnosis is often lack of early diagnosis significance. Although wrist joint magnetic resonance imaging showing early soft tissue and skeletal abnormalities were used for the early diagnosis of the disease, current domestic study in magnetic resonance imaging of this deformity is less...
October 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29457422/-a-case-report-of-madelung-s-deformity-and-literature-review
#4
Yan-Fei Chen, Yong Zhao, Qi Tian, Yuan-Hao Li
No abstract text is available yet for this article.
October 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29330548/shox-haploinsufficiency-presenting-with-isolated-short-long-bones-in-the-second-and-third-trimester
#5
Shwetha Ramachandrappa, Abhijit Kulkarni, Hina Gandhi, Cheryl Ellis, Renata Hutt, Lesley Roberts, Rosol Hamid, Aris Papageorghiou, Sahar Mansour
Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal. The molecular basis of SHOX haploinsufficiency was distinct in each case...
March 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29117834/open-wedge-osteotomy-with-ulnar-shortening-for-madelung-deformity-using-a-computer-generated-template
#6
Sho Yanagisawa, Takehiko Takagi, Tsuyoshi Murase, Yuka Kobayashi, Masahiko Watanabe
A variety of osteotomies have been reported to correct Madelung deformity using plain radiographs. However, evaluation of the deformity using 2-dimensional plain radiography is difficult because of its complex 3-dimensional nature. Therefore, we performed corrective osteotomy using recently developed 3D simulation technology on an adult woman with Madelung deformity, and achieved an excellent outcome. In this study, we calculated the amount of parallel displacement as well as the rotational angle for more precise correction, and performed open wedge osteotomy...
December 2017: Journal of Hand Surgery Asian-Pacific Volume
https://www.readbyqxmd.com/read/28266297/surgical-treatment-of-a-rare-reverse-madelung-deformity-in-11-years-female-patient
#7
Alexandru Ulici, Daniel Catalin Florea, Iulia Tevanov, Dan Zaharie, Madalina Carp
Madelung deformity is an abnormality of the distal part of the forearm due to a growth arrest in the distal radial physis creating an increase of the radial tilt angle associated with a dorsal subluxation of the distal ulna in most cases. It is a rare condition which represents only 1.7% of hand deformities being characterized by the presence of an abnormal structure, Vickers ligament, that tethers the distal radius to the lunate bone. Although it is believed to be a congenital disorder, the symptoms are absent till late childhood...
January 2017: Chirurgia
https://www.readbyqxmd.com/read/27814343/prevalence-of-shox-haploinsufficiency-among-short-statured-children
#8
Maja Rou Marstrand-Joergensen, Rikke Beck Jensen, Lise Aksglaede, Morten Duno, Anders Juul
BACKGROUND: The aim of this clinical study was to determine the prevalence of SHOX haploinsufficiency in a population of short stature patients and describe their anthropometric measurements. METHODS: 574 short statured patients were evaluated in a single center (1992-2015). SHOX copy number was detected by quantitative polymerase chain reaction (qPCR) in 574 subjects, followed by multiplex ligation-dependent probe amplification (MLPA) and DNA sequencing in subjects with SHOX haploinsufficiency...
February 2017: Pediatric Research
https://www.readbyqxmd.com/read/27795758/-erratum-madelung-s-deformity-a-case-report-and-review-of-the-literature
#9
(no author information available yet)
[This corrects the article DOI: 10.11604/pamj.2016.23.137.9002.].
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27708272/detection-of-shox-gene-aberrations-in-routine-diagnostic-practice-and-evaluation-of-phenotype-scoring-form-effectiveness
#10
Katerina Hirschfeldova, Martina Florianova, Vera Kebrdlova, Marketa Urbanova, Jitka Stekrova
Heterozygous aberrations of SHOX gene have been reported to be responsible for Léri-Weill dyschondrosteosis (LWD) and small portion of idiopathic short stature. The study was established to assess effectiveness of using phenotype 'scoring form' in patients indicated for SHOX gene defect analysis. The submitted study is based on a retrospective group of 352 unrelated patients enrolled as a part of the routine diagnostic practice and analyzed for aberrations affecting the SHOX gene. All participants were scanned for deletion/duplication within the main pseudoautosomal region (PAR1) using the multiplex ligation-dependent probe amplification (MLPA) method...
February 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/27676402/genotype-phenotype-relationship-in-patients-and-relatives-with-shox-region-anomalies-in-the-french-population
#11
Julie Auger, Amandine Baptiste, Imane Benabbad, Gaëlle Thierry, Jean-Marc Costa, Mélanie Amouyal, Marie-Laure Kottler, Bruno Leheup, Renaud Touraine, Sébastien Schmitt, Marine Lebrun, Valérie Cormier Daire, Jean-Paul Bonnefont, Nicolas de Roux, Caroline Elie, Myriam Rosilio
BACKGROUND: The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. METHODS: We performed a retrospective multicenter study on French subjects with a SHOX region anomaly diagnosed by multiplex ligation-dependent probe amplification or Sanger sequencing. Phenotypes were collected in each of the 7 genetic laboratories practicing this technique for SHOX analysis...
2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27602178/madelung-deformity
#12
Andrew Tranmer, Donald Laub
No abstract text is available yet for this article.
2016: Eplasty
https://www.readbyqxmd.com/read/27588041/rare-congenital-chromosomal-aberration-dic-x-y-p22-33-p11-32-in-a-patient-with-primary-myelofibrosis
#13
Lenka Pavlistova, Silvia Izakova, Zuzana Zemanova, Lucie Bartuskova, Martina Langova, Pavlina Malikova, Kyra Michalova
BACKGROUND: Constitutional translocations between sex chromosomes are rather rare in humans with breakpoints at Xp11 and Yq11 as the most frequent. Breakpoints on the short arm of the Y chromosome form one subgroup of t(X;Y), giving rise to a derived chromosome with the centromeres of both the X and Y chromosomes, dic(X;Y). Here, we report a rare congenital chromosomal aberration, 46,X,dic(X;Y)(p22.33;p11.32)[20]/45,X[10], in an adult male. CASE PRESENTATION: Primary myelofibrosis, a malignant haematological disease, was diagnosed in a 63-year-old man following liver transplantation after hepatocellular carcinoma...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27429682/can-multiple-hereditary-exostoses-overlap-with-mesomelic-dysplasia
#14
Ali Al Kaissi, Maher Ben Ghachem, Farid Ben Chehida, Jochen G Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
BACKGROUND: We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant. METHODS: Of 21 affected members over three generations, shortness of stature, associated with mesomelia resembling Leri-Weill dyschondrosteosis syndrome with no exostoses was evident in three family subjects...
August 2016: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/27313821/-madelung-s-deformity-a-case-report-and-review-of-the-literature
#15
REVIEW
Kouassi Kouame Jean Eric, Yao Loukou Blaise, Krah Koffi Leopold, Sery Bada Justin Léopold Niaore, M'bra Kouamé Innocent, Assere Yao Aboh Ganyn Robert Arnaud, Kodo Michel
Madelung's disease is a wrist deformity due to atrophy of the medial portion of the distal radial growth plate. It results in carpal anteromedial subluxation, limiting the range of motion. This skeletal dysplasia is rare and represents 1.7% of birth defects. The authors report a bilateral case in a 21 year old girl. This observational study allowed us to study the frequency, the signs and the means of diagnosis as well as adequate therapeutic measurements, in order to meet the expectations of patients.
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/26840275/intraobserver-and-interobserver-reliability-of-the-oberg-manske-tonkin-omt-classification-establishing-a-registry-on-congenital-upper-limb-differences
#16
Donald S Bae, Maria F Canizares, Patricia E Miller, Summer Roberts, Carley Vuillermin, Lindley B Wall, Peter M Waters, Charles A Goldfarb
BACKGROUND: The purpose of this investigation was to determine the reliability of the Oberg-Manske-Tonkin (OMT) classification system applied to patients enrolled in a prospective, multicenter cohort study of congenital upper limb differences. Our hypothesis was that the OMT classification would exhibit high intraobserver and interobserver reliability and thus would be an appropriate tool for the new Congenital Upper Limb Differences registry. METHODS: Four pediatric hand surgeons independently reviewed the medical records, clinical photographs, and radiographs of 60 randomly selected patients previously enrolled in the Congenital Upper Limb Differences registry...
January 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/26639996/chromosome-xq13-2-microduplication-involving-an-x-inactivation-gene-in-a-girl-with-short-stature-madelung-deformity-and-von-willebrand-disease
#17
Marcela M Nur, Merick Yamada, Vijay Tonk, Golder N Wilson
BACKGROUND: The objective of the study was to describe a novel Xp13.2 chromosome microduplication in a child with some features of Turner syndrome but with menorrhagia after normal menarche. We used clinical evaluation and high resolution chromosome (microarray) analysis. CASE: A 15-year-old girl with typical (short stature, pulmonic stenosis, widely-spaced nipples) and atypical (Madelung deformity, menorrhagia) manifestations of Turner syndrome had a novel chromosome constitution with extra material (microduplication) at band Xq13...
April 2016: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/26525609/treatment-of-madelung-s-deformity
#18
P Saffar, A Badina
Treatment of Madelung's deformity is still controversial. We reviewed retrospectively 19 patients with Madelung's deformity (two bilateral, 21 cases) who underwent surgery to the radius and ulna to improve range of motion, decrease pain and improve appearance of the wrist. Nineteen patients underwent 21 distal radial osteotomy procedures using three different techniques: subtraction, addition or dome osteotomy. Ulnar shortening and redirection of the distal ulna was performed in 12 cases; a long oblique osteotomy was used in 10 of these cases...
December 2015: Chirurgie de la Main
https://www.readbyqxmd.com/read/26512353/a-leri-weill-dyschondrosteosis-patient-confirmed-by-mutation-analysis-of-shox-gene
#19
Won Bok Choi, Seung Hyeon Seo, Woo Hyun Yoo, Su Young Kim, Min Jung Kwak
Leri-Weill dyschondrosteosis is characterized by SHOX deficiency, Madelung deformity, and mesomelic short stature. In addition, SHOX deficiency is associated with idiopathic short stature, Turner syndrome, and Langer mesomelic dysplasia. We report the first case of a Leri-Weill dyschondrosteosis patient confirmed by SHOX gene mutation analysis in Korea. The patient, who was a 7-year-old female, showed short stature. Her height and weight were 108.9 cm (<3rd percentile) and 19.7 kg (5th-10th percentile), respectively...
September 2015: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/26506715/-imaging-features-of-humerus-radius-and-ulna-rare-malformation
#20
(no author information available yet)
OBJECTIVE: To investigate the imaging features of humerus, radius and ulna rare malformation. METHODS: A retrospective analysis of the clinical data and image of 40 cases of humerus and the radius and ulna rare developmental deformity andadmitted to hospital affiliated to 1958 - 2014 years in The Affiliated Hospital of Hangzhou Normal University and the Third Hospital of Hebei Medical University. Take the Swanson classification as the basis, the image changes of different types of malformations are classified and summarized...
April 7, 2015: Zhonghua Yi Xue za Zhi [Chinese medical journal]
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