196 results match your criteria Madelung Deformity


Metabolic syndrome coexists with adult Léri-Weill dyschondrosteosis: A case report.

J Diabetes Investig 2020 Jul 7. Epub 2020 Jul 7.

Department of Endocrinology and Metabolism, Institute of Endocrinology, Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Affiliated Hospital of China Medical University, Shenyang, 110001, P. R. China.

Léri-Weill dyschondrosteosis (LWD) is usually caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX). The clinical manifestation of this disease is classic triad which are short stature, mesomelia, and Madelung deformity. LWD also includes other features such as high body mass index (BMI). Read More

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http://dx.doi.org/10.1111/jdi.13350DOI Listing

Madelung Deformity of the Wrist Managed Conservatively.

Cureus 2020 May 21;12(5):e8225. Epub 2020 May 21.

Orthopaedics, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, IND.

A 19-year-old female presented with pain, deformity, and slightly restricted left wrist motion for five years with gradual progression. Physical examination revealed volar subluxation of the left hand, dorsally prominent ulnar styloid, radial and dorsal bowing of the distal forearm, and mild restriction in wrist dorsiflexion. Radiographs showed a failure of ossification of the ulnar side of the distal radial epiphysis, increased radial inclination angle, dorsal subluxation of the distal ulna, V-shaped proximal carpal row due to proximal migration of the lunate, and increased interosseous space. Read More

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http://dx.doi.org/10.7759/cureus.8225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7306668PMC

Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects.

Horm Res Paediatr 2019 28;92(6):372-381. Epub 2020 Apr 28.

Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.

Introduction: Short stature homeobox-containing gene (SHOX) haploinsufficiency is associated with short stature, Madelung deformity and mesomelia. Current clinical screening tools are based on patients with intragenic variants or deletions. However, recent discoveries showed that deletions of the enhancer elements are quite common. Read More

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http://dx.doi.org/10.1159/000507215DOI Listing

Long-term Outcomes Following Vickers Ligament Release and Growth Modulation for the Treatment of Madelung Deformity.

J Pediatr Orthop 2020 Apr;40(4):e306-e311

Texas Scottish Rite Hospital for Children.

Background: Madelung deformity arises from a partial distal radial growth disturbance in combination with an abnormal hypertrophic ligament spanning the volar radius and carpus, termed, the Vickers ligament. The purpose of this study is to report long-term clinical and radiographic outcomes following Vickers ligament release and distal radial physiolysis in a population of skeletally immature patients with symptomatic Madelung deformity.

Methods: Medical records were retrospectively reviewed of patients with Madelung deformity surgically treated between 1994 and 2005. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001504DOI Listing

Functional Outcomes After Sauve-Kapandji Arthrodesis.

J Hand Surg Am 2020 May 13;45(5):408-416. Epub 2020 Jan 13.

Department of Orthopaedics, Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, MA. Electronic address:

Purpose: The Sauve-Kapandji procedure (SK) combines a distal radioulnar joint (DRUJ) arthrodesis with the creation of an ulnar pseudarthrosis for the salvage of DRUJ instability or arthritis. Despite several published case series, there are limited data on postoperative functional outcomes. This study evaluates patient-reported outcomes of SK using a validated functional outcomes scale. Read More

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http://dx.doi.org/10.1016/j.jhsa.2019.11.014DOI Listing

Bilateral Madelung Wrist Deformity in a 13-Year-Old Girl: Surgical Correction With the Taylor Spatial Frame External Fixation System.

J Am Acad Orthop Surg Glob Res Rev 2019 Nov 4;3(11). Epub 2019 Nov 4.

A΄ Orthopaedic Department, Athens Children's Hospital, Athens, Greece.

Madelung deformity is a complex malformation of the wrist, due to growth disturbance in the volar and ulnar part of the distal radial physis. We report a bilateral idiopathic Madelung wrist deformity, in a 13-year-old girl, corrected surgically with the Taylor spatial frame external fixation system plus osteotomy. The Taylor spatial frame,a hexapod system of external fixation, has the ability, by distraction histogenesis, to simultaneously correct all components of this multiplanar three-dimensional wrist deformity, restoring gradually the distal radius morphology and radiocarpal alignment. Read More

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http://dx.doi.org/10.5435/JAAOSGlobal-D-18-00036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6903818PMC
November 2019

Madelung Deformity.

J Clin Rheumatol 2019 Nov 8. Epub 2019 Nov 8.

From the Departments of Rheumatology.

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http://dx.doi.org/10.1097/RHU.0000000000001172DOI Listing
November 2019

Quantitative three-dimensional assessment of Madelung deformity.

J Hand Surg Eur Vol 2019 Dec 24;44(10):1041-1048. Epub 2019 Sep 24.

Department of Plastic, Reconstructive and Hand Surgery, University of Amsterdam, Amsterdam, Netherlands.

In the diagnostic work-up of Madelung deformity conventional radiographic imaging is often used, assessing the three-dimensional deformity in a two-dimensional manner. A three-dimensional approach could expand our understanding of Madelung deformity's complex wrist anatomy, while removing inter- and intra-rater differences. We measured previous two-dimensional-based and newly developed three-dimensional-based parameters in 18 patients with Madelung deformity (28 wrists) and 35 healthy participants (56 wrists). Read More

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http://dx.doi.org/10.1177/1753193419876203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6838729PMC
December 2019
1 Read

Selective Carpus Denervation - One of Treatment Options of Madelung Deformity.

Z Orthop Unfall 2019 Sep 18. Epub 2019 Sep 18.

Fakultät für medizinische Studien, Universität Pardubice, Tschechien.

Case presentation of 7 years follow up of female patient with wrist arthritis caused by Madelung deformity. As causal treatment remains unknown, the pain reduction by means of selective wrist denervation is one possible option. Read More

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http://dx.doi.org/10.1055/a-0977-3657DOI Listing
September 2019
3 Reads

Two cases of skeletal dysplasia from New Kingdom (c. 1400-1050 BCE) Tombos, Sudan.

Int J Paleopathol 2019 09 1;26:135-144. Epub 2019 Aug 1.

Department of Anthropology, Purdue University, 700 W. State Street, Suite 219, West Lafayette, IN 47907, USA. Electronic address:

Objective: This project investigates two cases of skeletal dysplasia from archaeological excavations of the New Kingdom Period (c. 1400-1050 BCE) portion of the Tombos cemetery in Sudan.

Materials: Fair to well-preserved skeletal remains of two individuals, one adult and one juvenile, are examined here. Read More

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http://dx.doi.org/10.1016/j.ijpp.2019.07.006DOI Listing
September 2019
4 Reads

[Inverse hemicallotasis to correct a pronounced Madelung deformity].

Authors:
Thomas Gausepohl

Handchir Mikrochir Plast Chir 2019 06 5;51(3):213-215. Epub 2019 Jun 5.

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http://dx.doi.org/10.1055/a-0914-3061DOI Listing
June 2019
5 Reads

Facet Inclinations and Interfacet Angle of the Distal Radius on Posteroanterior Radiographs.

J Hand Surg Am 2020 Jan 22;45(1):65.e1-65.e8. Epub 2019 May 22.

Orthopaedic Surgery, Hand Surgery, Private Practice at Hilal Mah, Rabindranath Tagore, Ankara, Turkey.

Purpose: To determine the lunate facet inclination (LFI), scaphoid facet inclination (SFI), and interfacet angle (IFA) of the distal radius on posteroanterior (PA) radiographs; evaluate the reliability of the IFA measurements; and define normative reference values for all 3 parameters.

Methods: The IFA was defined as the angle between the lines tangential to the scaphoid and the lunate facets. The reliability of the IFA measurements was investigated using 2 serial measurements made by 3 observers. Read More

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http://dx.doi.org/10.1016/j.jhsa.2019.04.006DOI Listing
January 2020
8 Reads

Madelung's deformity: capitate-related versus ulna-related measurement methods.

J Hand Surg Eur Vol 2019 Jun 27;44(5):524-531. Epub 2019 Feb 27.

1 Orthopedic Department, AL-Azhar University, Cairo, Egypt.

Several investigators have defined measurements for Madelung's deformity based on the distal radius or on the longitudinal ulnar axis to avoid the distorted distal radius and its lunate fossa. However, errors may occur in severe cases because of ulnar deformity and displacement. We quantified seven established measurements for Madelung's deformity relying on the central axis of the capitate. Read More

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http://dx.doi.org/10.1177/1753193419832233DOI Listing

Gymnast's wrist in a 12-year-old female with MRI correlation.

Radiol Case Rep 2019 Mar 14;14(3):360-364. Epub 2018 Dec 14.

University of Washington, Department of Radiology, Musculoskeletal Radiology Division, UW Medical Center - Roosevelt, 4245 Roosevelt Way NE Box 354755, Seattle, WA 98109, USA.

We describe a case of chronic overuse injury of the distal radial physis (gymnast's wrist). While the radiographic appearance of this entity has been reported, there are limited studies highlighting the MR appearance of this entity. This lesion is being seen with increasing frequency in young, elite gymnasts. Read More

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http://dx.doi.org/10.1016/j.radcr.2018.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297268PMC
March 2019
7 Reads

Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis.

J Oral Maxillofac Surg 2019 Apr 12;77(4):762-768. Epub 2018 Nov 12.

Professor and Department Head, INSERM U1008, Controlled Drug Delivery Systems and Biomaterials, Lille, France; Université Lille 2 Droit et Santé, Lille, France; Oral and Maxillofacial Department, Roger Salengro Hospital, CHU Lille, Lille, France.

One of the most common causes of short stature is a defect of the short stature homeobox-containing (SHOX) gene, which is located in pseudoautosomal region 1 on the distal end of the short arm of chromosomes Xp22.33 and Yp11.32. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S02782391183120
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http://dx.doi.org/10.1016/j.joms.2018.11.001DOI Listing
April 2019
30 Reads

Ulnar focal cortical indentation: a progressive, deforming variant of focal fibrocartilaginous dysplasia.

Pediatr Radiol 2019 02 15;49(2):187-195. Epub 2018 Nov 15.

Department of Musculoskeletal Radiology,, Temple University Hospital, 3401 N. Broad St., Philadelphia, PA, 19104, USA.

Background: Focal fibrocartilaginous dysplasia is a rare growth disturbance of bone resulting in deformity. In the ulna, focal fibrocartilaginous dysplasia is particularly rare, and the characteristic fibroligamentous tether can result in progressive deformity with progressive dislocation of the radial head. The fibroligamentous tether is similar in appearance and function to the Vickers ligament seen in Madelung deformity. Read More

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http://dx.doi.org/10.1007/s00247-018-4294-6DOI Listing
February 2019
58 Reads

MRI appearance of the anomalous volar radiotriquetral ligament in true Madelung deformity.

Skeletal Radiol 2019 Jun 20;48(6):915-918. Epub 2018 Oct 20.

Department of Radiology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.

Objective: To characterize the MRI appearance of the anomalous volar radiotriquetral ligament in cases of classic Madelung deformity.

Materials And Methods: With institutional review board approval, a search of the radiology information system was performed to identify cases of potential Madelung deformity using variations of the criteria "Madelung deformity." Cases of classic Madelung deformity were included based on the following criteria: dorsal subluxation of the ulnar head, volar tilt of the distal radius, increased radial inclination of greater than 25°, triangulation of the carpus, and presence of Vickers ligament defined as an anomalous volar radiolunate ligament. Read More

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http://link.springer.com/10.1007/s00256-018-3094-2
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http://dx.doi.org/10.1007/s00256-018-3094-2DOI Listing
June 2019
8 Reads

SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics.

J Pediatr Endocrinol Metab 2018 Nov;31(11):1273-1278

Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Pediatric Endocrinology, Ankara, Turkey.

Background The short stature homeobox-containing (SHOX) gene strongly affects height. Therefore, a better understanding of SHOX haploinsufficiency could be advantageous to early diagnosis and treatment. We investigated the rate of SHOX haploinsufficiency in patients of short stature and documented their anthropometric measurements. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0038DOI Listing
November 2018
17 Reads

Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene.

Sci Rep 2018 09 24;8(1):14292. Epub 2018 Sep 24.

Department of Biological Sciences, University of Calgary, 2500 University Drive N.W., Calgary, Alberta, T2N 1N4, Canada.

Haploinsufficiency of the human SHOX gene causes Léri-Weill dyschondrosteosis (LWD), characterized by shortening of the middle segments of the limbs and Madelung deformity of the wrist. As many as 35% of LWD cases are caused by deletions of non-coding sequences downstream of SHOX that presumably remove an enhancer or enhancers necessary for SHOX expression in developing limbs. We searched for these active sequences using a transgenic mouse assay and identified a 563 basepair (bp) enhancer with specific activity in the limb regions where SHOX functions. Read More

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http://www.nature.com/articles/s41598-018-32565-1
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http://dx.doi.org/10.1038/s41598-018-32565-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6155277PMC
September 2018
7 Reads

[Clinical and molecular study in a family with multiple osteochondromatosis].

Acta Ortop Mex 2018 Mar-Apr;32(2):108-111

Departamento de Genética. Facultad de Biología. Universidad de Barcelona. CIBERER, IBUB. Barcelona, España.

We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219CT, (p.Gln407Stop) in the EXT1 gene. Read More

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May 2019
25 Reads

Surgical Management of Madelung Deformity: A Systematic Review.

Hand (N Y) 2019 11 13;14(6):725-734. Epub 2018 Aug 13.

University of Amsterdam, The Netherlands.

Madelung deformity is a congenital wrist condition characterized by volar subluxation of the wrist caused by premature growth arrest of the distal radius. Progressive symptoms can necessitate surgical intervention, yet optimal treatment strategy remains unknown. The aim of this study is to determine treatment options, surgical indications, and operative outcomes for Madelung deformity. Read More

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http://dx.doi.org/10.1177/1558944718793179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859600PMC
November 2019
53 Reads

Treatment of Madelung Deformity With Vicker Ligament Release and Radial Physiolyses: A Case Series.

J Hand Surg Am 2019 Feb 20;44(2):158.e1-158.e9. Epub 2018 Jun 20.

Department of Orthopedic Surgery, Nationwide Children's Hospital, Columbus, OH. Electronic address:

Purpose: To evaluate the surgical outcomes in a series of Madelung wrists treated with a Vicker ligament release at a young age. We hypothesize that early treatment of Madelung deformity with Vicker ligament release is safe and may minimize progression of deformity.

Methods: A retrospective review was performed at a single large pediatric institution from 2013 to 2016 of patients with a diagnosis of Madelung deformity treated with Vicker ligament release and radial physiolysis. Read More

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http://dx.doi.org/10.1016/j.jhsa.2018.04.033DOI Listing
February 2019
8 Reads

How Reliable is the Radiographic Diagnosis of Mild Madelung Deformity?

J Wrist Surg 2018 Jul 14;7(3):227-231. Epub 2017 Dec 14.

Dell Medical School, The University of Texas at Austin, Austin, Texas.

 Patients with Madelung deformity exhibit a spectrum of mild to severe deformity and distortion of wrist geometry. It may be difficult to reliably distinguish mild Madelung deformity from normal.  This study thus tested the reliability of the diagnosis of mild Madelung deformity on a single posteroanterior (PA) radiograph. Read More

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http://dx.doi.org/10.1055/s-0037-1612636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005771PMC
July 2018
11 Reads

Report of a Novel Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.

Front Endocrinol (Lausanne) 2018 10;9:163. Epub 2018 Apr 10.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Perugia, Italy.

Heterozygous mutations in the gene or in the upstream and downstream enhancer elements are associated with 2-22% of cases of idiopathic short stature (OMIM #300582) and with 60% of cases of Leri-Weill dyschondrosteosis (OMIM #127300) with which female subjects are generally more severely affected. Approximately 80-90% of pathogenic variants are deletions or duplications, and the remaining 10-20% are point mutations that primarily give rise to missense variants. The clinical interpretation of novel variants, particularly missense variants, can be challenging and can remain of uncertain significance. Read More

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http://dx.doi.org/10.3389/fendo.2018.00163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902492PMC
April 2018
33 Reads

Lunate Grafting Into the Radius for Lunate Fossa Reconstruction in Madelung Deformity.

J Hand Surg Am 2018 07 3;43(7):683.e1-683.e5. Epub 2018 Mar 3.

Department of Orthopaedics, Hospital Santa Casa de Misericórdia, Porto Alegre, Brazil.

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. Read More

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http://dx.doi.org/10.1016/j.jhsa.2018.01.014DOI Listing
July 2018
30 Reads

Acute lymphoblastic leukemia in a child with Leri-Weill syndrome and complete SHOX gene deletion: A Case Report.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2018 Mar 21;162(1):65-70. Epub 2018 Feb 21.

Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic.

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). Read More

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http://biomed.papers.upol.cz/doi/10.5507/bp.2018.002.html
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http://dx.doi.org/10.5507/bp.2018.002DOI Listing
March 2018
30 Reads

[Progress on research of Madelung's deformity].

Zhongguo Gu Shang 2017 Oct;30(10):976-978

The 2nd Department of Orthopaedics, Gansu Provincial Hospital, Lanzhou 730000, Gansu, China.

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. Read More

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http://dx.doi.org/10.3969/j.issn.1003-0034.2017.10.020DOI Listing
October 2017
17 Reads

Madelung's deformity.

Reumatol Clin 2019 Nov - Dec;15(6):e161-e162. Epub 2018 Jan 19.

Servicio de Reumatología, Hospital Universitario Virgen de las Nieves, Granada, España.

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http://dx.doi.org/10.1016/j.reuma.2017.12.005DOI Listing
June 2020
3 Reads

SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.

Eur J Hum Genet 2018 03 12;26(3):350-358. Epub 2018 Jan 12.

South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK.

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. Read More

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http://dx.doi.org/10.1038/s41431-017-0080-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839025PMC
March 2018
12 Reads

Delay in an Eating Disorder Diagnosis: The Reason Was a "Shox".

J Pediatr Adolesc Gynecol 2018 Apr 14;31(2):138-139. Epub 2017 Nov 14.

University of Oklahoma Health Sciences Center, Department of Pediatrics, Section of Adolescent Medicine, Oklahoma City, Oklahoma. Electronic address:

Background: Patients' underlying medical conditions might affect the presentation and progression of an eating disorder.

Case: We describe a patient with an undiagnosed, rare, genetic skeletal dysplasia with effects on body mass index that likely led to body image distortion and delayed the diagnosis of an eating disorder.

Summary And Conclusion: It is critical to fully assess disordered eating in the context of each patient's clinical status. Read More

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http://dx.doi.org/10.1016/j.jpag.2017.11.001DOI Listing
April 2018
14 Reads

Open Wedge Osteotomy with Ulnar Shortening for Madelung Deformity Using a Computer-Generated Template.

J Hand Surg Asian Pac Vol 2017 Dec;22(4):538-543

* Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Kanagawa, Japan.

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. Read More

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http://dx.doi.org/10.1142/S021881041772042XDOI Listing
December 2017
21 Reads

[The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study].

Orv Hetil 2017 Aug;158(34):1351-1356

Csolnoky Ferenc Kórház Veszprém.

Introduction: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (ISS), in 50-90% of patients with Leri-Weill dyschondrosteosis syndrome (LWS), and in almost 100% of patients with Turner syndrome.

Aim: The aim of our study was to evaluate the frequency of SHOX gene haploinsufficiency in children with ISS, LWS and in patients having Turner syndrome phenotype (TF), but normal karyotype, and to identify the dysmorphic signs characteristic for SHOX gene deficiency. Read More

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http://www.akademiai.com/doi/abs/10.1556/650.2017.30829
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http://dx.doi.org/10.1556/650.2017.30829DOI Listing
August 2017
27 Reads

Response to: Madelung deformity.

Reumatol Clin 2018 Jan - Feb;14(1):60-61. Epub 2017 Apr 14.

Endocrinología Pediátrica, Hospital La Paz, Madrid, España.

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http://dx.doi.org/10.1016/j.reuma.2017.03.007DOI Listing
April 2018
26 Reads

Surgical Treatment of a Rare "Reverse" Madelung Deformity in 11 Years Female Patient.

Chirurgia (Bucur) 2017 Jan-Feb;112(1):72-76

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. Read More

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http://dx.doi.org/10.21614/chirurgia.112.1.72DOI Listing
June 2017
17 Reads

Prevalence of SHOX haploinsufficiency among short statured children.

Pediatr Res 2017 02 4;81(2):335-341. Epub 2016 Nov 4.

Department of Growth and Reproduction, Rigshospitalet, DK-2100 Copenhagen, Denmark.

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. Read More

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http://dx.doi.org/10.1038/pr.2016.233DOI Listing
February 2017
29 Reads

A girl with left wrist deformity.

BMJ 2016 Oct 6;355:i4925. Epub 2016 Oct 6.

Department of Hepatology, Liver Research Center, First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China

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http://dx.doi.org/10.1136/bmj.i4925DOI Listing
October 2016
25 Reads

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.

J Hum Genet 2017 Feb 6;62(2):253-257. Epub 2016 Oct 6.

Institute of Biology and Medical Genetics, First Faculty of Medicine and General University Hospital, Charles University in Prague, Prague, Czech Republic.

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. Read More

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http://dx.doi.org/10.1038/jhg.2016.117DOI Listing
February 2017
38 Reads

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.

Horm Res Paediatr 2016 28;86(5):309-318. Epub 2016 Sep 28.

Department of Pediatrics and Medical Genetics, Brabois Hospital, Vandoeuvre-lès-Nancy, France.

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. Read More

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http://dx.doi.org/10.1159/000448282DOI Listing
April 2017
63 Reads

Madelung Deformity.

Eplasty 2016 8;16:ic34. Epub 2016 Aug 8.

University of Vermont College of Medicine; Burlington; University of Vermont Medical Center; Burlington.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4993032PMC
September 2016
10 Reads

Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis.

Mol Cytogenet 2016 31;9(1):67. Epub 2016 Aug 31.

Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine of Charles University, U Nemocnice 499/2, Prague 2, 128 08 Czech Republic ; Department of Cytogenetics, Institute of Hematology and Blood Transfusion, U Nemocnice 1, 128 08 Prague 2, Czech Republic.

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. Read More

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http://dx.doi.org/10.1186/s13039-016-0276-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007838PMC
September 2016
25 Reads

[Madelung's deformity: a case report and review of the literature].

Pan Afr Med J 2016 25;23:137. Epub 2016 Mar 25.

Service d'Orthopédie, Traumatologie, CHU de Bouaké, Côte d'Ivoire.

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. Read More

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http://dx.doi.org/10.11604/pamj.2016.23.137.9002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898285PMC
February 2017
24 Reads

The wrist that was not straight.

Authors:
Adrian Spiteri

Emerg Med J 2016 Mar;33(3):237

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http://dx.doi.org/10.1136/emermed-2015-205127DOI Listing
March 2016
8 Reads

Intraobserver and Interobserver Reliability of the Oberg-Manske-Tonkin (OMT) Classification: Establishing a Registry on Congenital Upper Limb Differences.

J Pediatr Orthop 2018 Jan;38(1):69-74

Department of Orthopaedic Surgery, Shriners Hospital for Children, St. Louis, MO.

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. Read More

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http://dx.doi.org/10.1097/BPO.0000000000000732DOI Listing
January 2018
65 Reads

Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease.

J Pediatr Adolesc Gynecol 2016 Apr 27;29(2):e39-42. Epub 2015 Nov 27.

Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, Texas.

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. Read More

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http://dx.doi.org/10.1016/j.jpag.2015.11.010DOI Listing
April 2016
7 Reads

Treatment of Madelung's deformity.

Authors:
P Saffar A Badina

Chir Main 2015 Dec 30;34(6):279-85. Epub 2015 Oct 30.

Institut français de chirurgie de la main, 5, rue du Dôme, 75116 Paris, France; Service d'orthopédie pédiatrique, hôpital Necker, 149, rue de Sèvres, 75015 Paris, France. Electronic address:

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. Read More

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http://dx.doi.org/10.1016/j.main.2015.10.001DOI Listing
December 2015
17 Reads

A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene.

Ann Pediatr Endocrinol Metab 2015 Sep 30;20(3):162-5. Epub 2015 Sep 30.

Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea.

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. Read More

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http://dx.doi.org/10.6065/apem.2015.20.3.162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623345PMC
September 2015
30 Reads

[Imaging features of humerus, radius and ulna rare malformation].

Authors:

Zhonghua Yi Xue Za Zhi 2015 Apr;95(13):1021-3

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. Read More

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April 2015
10 Reads

Clinical image of bilateral Madelung deformity.

ANZ J Surg 2018 Mar 24;88(3):E220-E221. Epub 2015 Sep 24.

Department of Orthopaedics, Orlando Regional Medical Center, Orlando, Florida, USA.

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http://dx.doi.org/10.1111/ans.13335DOI Listing
March 2018
16 Reads

[Aptis Prosthesis for the Treatment of Painful Instability of the Ulnar Stump Following Wide Excision of the Distal ulna].

Handchir Mikrochir Plast Chir 2015 Oct 7;47(5):312-5. Epub 2015 Sep 7.

Klinik für Handchirurgie, Rhön-Klinikum, Bad Neustadt a. d. Saale.

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. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1559726
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http://dx.doi.org/10.1055/s-0035-1559726DOI Listing
October 2015
9 Reads