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Madelung deformity

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https://www.readbyqxmd.com/read/27814343/prevalence-of-shox-haploinsufficiency-among-short-statured-children
#1
Maja Rou Marstrand-Joergensen, Rikke Beck Jensen, Lise Aksglaede, Morten Dunoe, 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...
November 4, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27795758/-erratum-madelung-s-deformity-a-case-report-and-review-of-the-literature
#2
(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
#3
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...
October 6, 2016: 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
#4
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...
September 28, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27602178/madelung-deformity
#5
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
#6
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
#7
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
#8
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
#9
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...
February 2, 2016: 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
#10
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
#11
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
#12
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
#13
(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]
https://www.readbyqxmd.com/read/26491911/preoperative-computer-simulation-and-patient-specific-guides-are-safe-and-effective-to-correct-forearm-deformity-in-children
#14
Andrea S Bauer, Dora A R Storelli, Sarah E Sibbel, H Relton McCarroll, Lisa L Lattanza
BACKGROUND: Posttraumatic and congenital forearm deformities in children can be difficult to appreciate in all planes. In cases of distal radioulnar joint instability and loss of forearm rotation, surgical correction is challenging. Advances in 3-dimensional printing allow creation of custom guides at a reasonable cost, enabling precise correction of the deformity in all planes. METHODS: Nineteen children with deformity of the forearm had corrective osteotomies performed using preoperative 3-dimensional computer modeling and patient-specific surgical guides...
October 21, 2015: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/26403804/clinical-image-of-bilateral-madelung-deformity
#15
Andrea Emilio Salvi, Bruno Livani, Anthony Vatroslav Florschutz
No abstract text is available yet for this article.
September 24, 2015: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/26344161/-aptis-prosthesis-for-the-treatment-of-painful-instability-of-the-ulnar-stump-following-wide-excision-of-the-distal-ulna
#16
F Goehtz, M Mühldorfer-Fodor, K-J Prommersberger, J van Schoonhoven
We report the case of 35-year-old woman with severe Madelung's deformity. Having undergone a Kapandji-Sauvé-procedure with wide excision of the distal ulna, the patient suffered from painful instability of the ulnar stump. Although a corrective osteotomy of the distal radius had been performed, severe ulnar inclination of the distal radius remained, leaving persisting pain. Implantation of a constrained distal radioulnar joint prosthesis combined with a renewed extraarticular corrective osteotomy of the distal radius was performed...
October 2015: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
https://www.readbyqxmd.com/read/26341718/madelung-deformity
#17
REVIEW
Scott H Kozin, Dan A Zlotolow
Madelung deformity of the wrist is more common in females and is often associated with Leri Weill dyschondrosteosis, a mesomelic form of dwarfism. Patients with Madelung deformity often report wrist deformity resulting from the prominence of the relatively long ulna. The typical Madelung deformity is associated with a Vickers ligament that creates a tether across the volar-ulnar radial physis that restricts growth across this segment. The distal radius deforms in the coronal (increasing radial inclination) and the sagittal (increasing volar tilt) planes...
October 2015: Journal of Hand Surgery
https://www.readbyqxmd.com/read/26161772/madelung-deformity-and-extensor-tendon-rupture
#18
Gholam Hossain Shahcheraghi, Maryam Peyman, Kamran Mozafarian
Extensor tendon rupture in chronic Madelung deformity, as a result of tendon attrition on the dislocated distal ulna, is a rare occurrence. It is, however, seen more often in rheumatoid arthritis. There are few case reports in the English-language literature on this issue. We report a case of multiple tendon ruptures in a previously undiagnosed Madelung deformity.
July 2015: American Journal of Orthopedics
https://www.readbyqxmd.com/read/26135644/madelung-deformity-and-madelung-type-deformities-a-review-of-the-clinical-and-radiological-characteristics
#19
REVIEW
Sayed Ali, Summer Kaplan, Theresa Kaufman, Sarah Fenerty, Scott Kozin, Dan A Zlotolow
Madelung deformity of the distal radius results from premature closure of the medial volar aspect of the distal radial physis, leading to increased volar tilt and increased inclination of the radial articular surface, triangulation of the carpus with proximal migration of the lunate and dorsal displacement of the distal ulna. The deformity is particularly common in Leri-Weill dyschondrosteosis, but it may also occur in isolation. True Madelung deformity can be differentiated from Madelung-type deformities by the presence of an anomalous radiolunate ligament (Vickers ligament)...
November 2015: Pediatric Radiology
https://www.readbyqxmd.com/read/26075495/heterozygous-npr2-mutations-cause-disproportionate-short-stature-similar-to-l%C3%A3-ri-weill-dyschondrosteosis
#20
Alfonso Hisado-Oliva, Ana I Garre-Vázquez, Fabiola Santaolalla-Caballero, Alberta Belinchón, Ana C Barreda-Bonis, Gabriela A Vasques, Joaquin Ramirez, Cristina Luzuriaga, Gianni Carlone, Isabel González-Casado, Sara Benito-Sanz, Alexander A Jorge, Angel Campos-Barros, Karen E Heath
CONTEXT: SHOX mutations have been detected in approximately 70% of Léri-Weill dyschondrosteosis (LWD) and approximately 2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. The recent identification of NPR2 mutations in ISS suggested that NPR2 mutations may also be involved in disproportionate short stature. OBJECTIVE: The objective of the study was to investigate whether NPR2 mutations can account for a proportion of the cases referred for LWD and ISS in whom no SHOX mutation was detected...
August 2015: Journal of Clinical Endocrinology and Metabolism
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