Search Our Scientific Publications & Authors

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

J Oral Maxillofac Surg 2018 Nov 12. Epub 2018 Nov 12.

Professor and Department Head, INSERM U1008, Controlled Drug Delivery Systems and Biomaterials, Lille; Université Lille 2 Droit et Santé, Lille; 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

Pediatr Radiol 2019 Feb 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

Skeletal Radiol 2018 Oct 20. 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

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

Sci Rep 2018 Sep 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

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

Hand (N Y) 2018 Aug 13:1558944718793179. Epub 2018 Aug 13.

1 University of Amsterdam, The Netherlands.

Background: 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

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

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

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

J Hand Surg Am 2018 Jul 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

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

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

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

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

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

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

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

Endocrinología Pediátrica, Hospital La Paz, Madrid, España.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

J Hand Surg Am 2015 Oct 1;40(10):2090-8. Epub 2015 Sep 1.

Department of Orthopaedic Surgery, Temple University, Philadelphia, PA; Upper Extremity Center of Excellence, Philadelphia, PA.

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. Read More

Am J Orthop (Belle Mead NJ) 2015 Jul;44(7):E242-4

Shiraz University of Medical Sciences, Shiraz, Iran.

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. Read More

Pediatr Radiol 2015 Nov 2;45(12):1856-63. Epub 2015 Jul 2.

Shriners Hospitals for Children, Philadelphia, PA, USA.

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). Read More

J Clin Endocrinol Metab 2015 Aug 15;100(8):E1133-42. Epub 2015 Jun 15.

Institute of Medical and Molecular Genetics (A.H.-O., A.I.G.-V., F.S.-C., A.B., S.B.-S., A.C.-B., K.E.H.) and Multidisciplinary Skeletal Dysplasia Unit (A.H.-O., A.B., A.C.B.-B., I.G.-C., S.B.-S., K.E.H.), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, 28046 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras Unit 753 (A.H.-O., A.B., S.B.-S., A.C.-B., K.E.H.), Instituto de Salud Carlos III, 28029 Madrid, Spain; Department of Pediatric Endocrinology (A.C.B.-B., I.G.-C.), Hospital Universitario La Paz, Universidad Autónoma de Madrid, 28046 Madrid, Spain; Unidade de Endocrinologia Genetica (G.A.V., A.A.J.), Laboratorio de Endocrinologia Celular and Molecular LIM-25, Universidade de São Paulo, 05508-900 São Paulo, Brazil; Department of Endocrinology and Nutrition (J.R.), Hospital Universitario Príncipe de Asturias, Alcalá de Henares, 28805 Madrid, Spain; Department of Pediatric Endocrinology (C.L.), Hospital Marqués de Valdecilla, 39008 Santander, Spain; and Department of Pediatric Endocrinology (G.C.), Hospital Virgen del Puerto, 10600 Plasencia, Cáceres, Spain.

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. Read More

J Pediatr Orthop 2016 Apr-May;36(3):310-5

*Department of Pediatric Orthopaedics, Deformity Correction and Adult Foot & Ankle Surgery, Orthopaedic Hospital Speising, Vienna, Austria †Clinical Research Center ‡Department of Orthopedic Surgery, Boston Children's Hospital, Boston, MA.

Background: There are no established guidelines on the age or the severity of deformity for which an ulna shortening osteotomy or ulna epiphysiodesis should be performed in children and adolescents with Madelung deformity. The purpose of this study was to identify radiographic criteria associated with the eventual performance for an ulna shortening procedure in this patient population.

Methods: We retrospectively identified 41 wrists in 31 Madelung patients (mean±SD age 13. Read More

J Genet 2014 Dec;93(3):809-12

State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, People's Republic of China.

J Hand Surg Am 2015 Jan;40(1):127-32.e1-2

Department of Orthopaedic Surgery, St Louis Shriners Hospital for Children and St Louis Childrens Hospital, Washington University School of Medicine, St. Louis, MO; Gillette Childrens Specialty Care, St. Paul, MN; Department of Orthopaedic Surgery, University of Minnesota, Minneapolis, MN.

Purpose: To examine the relative presentation frequency of children with upper limb congenital anomalies at 3 Midwestern referral centers using the Oberg, Manske, and Tonkin (OMT) classification and to assess the utility of this new classification system.

Methods: 641 individuals with 653 congenital upper extremity anomalies were identified at 3 hospitals in 2 large metropolitan areas during a 1-year interval. Patients were identified prospectively and the specific upper extremity anomaly and any associated syndromes were confirmed using medical records and radiographs. Read More

J Hand Surg Am 2015 Jan 7;40(1):62-6.e1. Epub 2014 Oct 7.

Department of Pediatric Orthopaedics, Deformity Correction, and Adult Foot & Ankle Surgery, Orthopaedic Hospital Speising, Vienna, Austria; Department of Orthopedic Surgery, Boston Children's Hospital, Boston, MA.

Purpose: To assess inter- and intrarater reliability of both ulna variance and lunate subsidence measurement methods in a large consecutive series of children with Madelung deformity.

Methods: Ulnar variance and lunate subsidence were measured on 41 standard anteroposterior wrist radiographs from 31 patients with Madelung deformity. The patients had a mean age of 13 years (range, 5-25) at the time of presentation. Read More

Orthop Traumatol Surg Res 2014 Oct 10;100(6 Suppl):S349-52. Epub 2014 Sep 10.

Service de chirurgie d'orthopédie pédiatrique, hôpital d'Enfants, CHU de Nancy, allée du Morvan, 54500 Vandœuvre-lès-Nancy, France. Electronic address:

Introduction: Madelung's deformity is a bone dysplasia that occurs predominantly in adolescent females, characterized by early epiphyseal growth arrest in the medial part of the distal radius. This leads to an upward and medial displacement of the radial joint surface, restricting range of motion.

Objectives: The objective of this study was to determine whether there was a link between clinical and radiological data in children with Madelung's deformity and to test the hypothesis of a relation between the deformity and a genetic mutation. Read More

Clin Pediatr Endocrinol 2014 Jul 6;23(3):65-72. Epub 2014 Aug 6.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2-16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the wrist that can be attributed to premature epiphyseal fusion of the distal radius. Computed tomography of SHOX-deficient patients revealed a thin bone cortex and an enlarged total bone area at the diaphysis of the radius, while histopathological analyses showed a disrupted columnar arrangement of chondrocytes and an expanded hypertrophic layer of the growth plate. Read More

BMC Med Genet 2014 Jul 23;15:87. Epub 2014 Jul 23.

Department of Psychological, Humanities and Territory Sciences, School of Medicine and Health Sciences, "G, d'Annunzio" University of Chieti, via dei Vestini 31, 66013 Chieti, Italy.

Background: SHOX alterations have been reported in 67% of patients affected by Léri-Weill dyschondrosteosis (LWD), with a larger prevalence of gene deletions than point mutations. It has been recently demonstrated that these deletions can involve the SHOX enhancer region, rather that the coding region, with variable phenotype of the affected patients.Here, we report a SHOX gene analysis carried out by MLPA in 14 LWD patients from 4 families with variable phenotype. Read More

Reumatol Clin 2014 Jul-Aug;10(4):266-7. Epub 2014 Mar 5.

Unidad de Reumatología Pediátrica, Servicio de Reumatología, Hospital Universitario Ramón y Cajal, Madrid, España.

Handchir Mikrochir Plast Chir 2014 Jun 26;46(3):199-201. Epub 2014 Feb 26.

Vulpiusklinik, Handchirurgie, Bad Rappenau.

The palmaris profundus muscle is a rare entity which has been mentioned in association with nerve compressions. Madelung deformity is based both on an osteochondral lesion of the distal radial physis and often on the Vickers' ligament which originates around the lunate and inserts proximally in the radial physis. A 15-year-old right-handed female adolescent suffered from symptomatic left-sided Madelung deformity with Vickers' ligament and additional palmaris profundus muscle. Read More

Reumatol Clin 2014 Mar-Apr;10(2):125-6. Epub 2013 Dec 7.

Servicio de Reumatología, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, España. Electronic address: