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Hand (N Y) 2022 Jun 20:15589447221095113. Epub 2022 Jun 20.

Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Japan.

We report a case of an 11-year-old girl with bilateral severe Madelung deformity who underwent radial osteotomy with callus distraction. The distal radial articulation was corrected at surgery, and a unilateral fixator was subsequently used for callus distraction. No postoperative complication was noted. Read More

Hand Surg Rehabil 2022 06 4;41(3):317-323. Epub 2022 Mar 4.

Baltalimani Bone Diseases Training and Research Hospital, Department of Hand Surgery, University of Health Sciences Turkey, Baltalimani Hisar Caddesi No:58/2, 34470 Sariyer/Istanbul, Turkey. Electronic address:

Partial deficiency of distal radial and volar cartilage plate growth is the main pathology in Madelung's deformity. Surgical treatment can use a Taylor Spatial Frame (TSF) external fixator, which provides simultaneous multiplanar correction and lengthening after radial osteotomy, sparing Vickers' ligament and the ulna. We sought to evaluate the radiological and functional results of Madelung's deformity correction by TSF, by retrospectively analyzing eight Madelung's deformities in seven patients between August 2011 and May 2015. Read More

Rev Bras Ortop (Sao Paulo) 2022 Feb 1;57(1):113-119. Epub 2021 Oct 1.

Serviço de Ortopedia Pediátrica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

 The present study aimed to evaluate esthetic and functional outcomes from the surgical treatment of Madelung deformity in children.  This is a retrospective study of pediatric patients with Madelung deformity who were surgically treated with dome osteotomy of the distal radius and Vickers ligament section from 2015 to 2018. Patients with a minimum postoperative follow-up period of 12 months were included. Read More

Gene 2022 Apr 22;818:146238. Epub 2022 Jan 22.

Department of Medical Genetics, University Hospital Olomouc, Olomouc, Czech Republic; Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacký University Olomouc, Olomouc, Czech Republic.

The short stature homeobox-containing (SHOX) is the most frequently analysed gene in patients classified as short stature patients (ISS) or diagnosed with Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), or Madelung deformity (MD). However, clinical testing of this gene focuses primarily on single nucleotide variants (SNV) in its coding sequences and copy number variants (CNV) overlapping SHOX gene. This review summarizes the clinical impact of variants in noncoding regions of SHOX. Read More

Hand (N Y) 2021 Nov 12:15589447211054133. Epub 2021 Nov 12.

University of Amsterdam, The Netherlands.

Background: Madelung deformity is a rare congenital hand difference with little known regarding the patient perspective. In this cross-sectional survey study, we harnessed the global reach of social media to understand the clinical spectrum of Madelung deformity and its impact on physical, mental, and social health.

Methods: A survey was developed based on a previously published protocol and multiple Patient-Reported Outcomes Measurement Information System (PROMIS) short forms. Read More

SAGE Open Med Case Rep 2021 30;9:2050313X211049898. Epub 2021 Sep 30.

Department of Orthopaedic Surgery, Graduate School of Medicine, Gunma University, Maebashi, Japan.

Madelung deformity is a congenital disorder with the malformation of anterior ulnar bowing of radius and a dorsally protruding ulnar head caused by premature growth disturbance at the medial volar aspect of the distal radius. This report describes a bilateral idiopathic Madelung deformity in a 17-year-old woman treated successfully using reverse wedge osteotomy of the distal radius in a symptomatic left wrist. Reverse wedge osteotomy can orient the radial joint surface while correcting the whole radius length by reversely putting the wedge bone removed from the distal metaphysis of radius, the base of which is cut from the surplus of the radial and dorsal cortical bone in the hypotrophic portion. Read More

J Hand Surg Asian Pac Vol 2021 Sep;26(3):371-376

Christine M. Kleinert Institute for Hand and Microsurgery, Louisville, KY, USA.

Since the Sauvé-Kapandji procedure was introduced in 1936, many modifications were created using dynamic stabilizer, such as the ECU (extensor carpi ulnaris), the FCU (flexor carpi ulnaris), pronator teres to solve proximal ulnar stump pain. We believe that this modification is also another option for distal ulnar stump instability. From January 1998 to February 2017, there were 13 patients received the Sauvé-Kapandji (S-K) procedure with tenodesis of the ECU to the carpus and interosseous membrane. Read More

Br J Hosp Med (Lond) 2021 Jun 22;82(6):1-2. Epub 2021 Jun 22.

Department of Orthopaedic Surgery, Prince Charles Hospital, Merthyr Tydfil, UK.

J Plast Surg Hand Surg 2022 Apr 9;56(2):121-126. Epub 2021 Jun 9.

Department of Hand Surgery and Microsurgery, University Hospital of Modena, Modena, Italy.

Purpose: Dome osteotomy of the distal radius with Vickers ligament release is an established method of treatment for Madelung deformity. Many different surgical procedures have been proposed in literature but techniques, patient inclusion and efficacy evaluations are heterogeneous.

Materials And Methods: A retrospective review of children affected by 'distal radius' Madelung deformity and treated with a standardized surgical procedure (modified reverse dome osteotomy of the distal radius and volar fixation with a small locking plate) between 2010 and 2018 at a single center was performed. Read More

Hand (N Y) 2021 Jun 6:15589447211017223. Epub 2021 Jun 6.

University of Amsterdam, The Netherlands.

Background: Madelung deformity is a rare wrist anomaly that causes considerable pain while restricting function. In this study, we describe a radioscapholunate (RSL) arthrodesis with a neo-distal radioulnar joint (DRUJ) in Madelung deformity patients with an abnormal sigmoid notch and compare results to patients after a reverse wedge osteotomy.

Methods: Six wrists underwent RSL arthrodesis with a neo-DRUJ in a two-phase approach: (1) modified RSL arthrodesis with triquetrectomy; and (2) distal scaphoidectomy. Read More

Vavilovskii Zhurnal Genet Selektsii 2020 Nov;24(7):785-793

Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.

Reproductive potential is the most important conditional indicator reflecting the ability of individuals in a population to reproduce, survive and develop under optimal environmental conditions. As for humans, the concept of reproductive potential can include the level of the individual's mental and physical state, which allows them to reproduce healthy offspring when they reach social and physical maturity. Female reproductive potential has been investigated in great detail, whereas the male reproductive potential (MRP) has not received the equal amount of attention as yet. Read More

J Hand Surg Am 2021 07 10;46(7):622.e1-622.e12. Epub 2021 Apr 10.

Department of Plastic, Reconstructive and Hand Surgery.

Purpose: Various skeletal and soft tissue abnormalities have been identified in Madelung deformity and have been hypothesized to play a causal role in its progressive symptomatology; however, our pathological understanding of these changes remains limited. In this study, we biomechanically assessed the Madelung deformity wrist, using 4-dimensional computed tomography imaging.

Methods: Nine Madelung deformity wrists (5 patients; age, 24 ± 5 y) and 18 healthy wrists (9 volunteers; age, 28 ± 3 y) underwent 4-dimensional imaging during flexion-extension motion and radioulnar deviation. Read More

Acta Neurol Belg 2021 Jun 10;121(3):749-755. Epub 2021 Apr 10.

Department of Medical Genetics, Duzce University Medical Faculty, Duzce, Turkey.

The purpose of this study is to reveal the effect on the clinical phenotype of variants detected at family examination of a case of combined pogo transposable element derived with zinc finger domain (POGZ) gene, tubulin folding cofactor E (TBCE) gene, and short stature homeobox (SHOX) gene variation. A Turkish non-consanguineous family consisting of five members was investigated. Whole exome sequence analysis and chromosomal microarray analysis (CMA) were performed for a 2-year-old male patient (the proband) with global developmental delay, hypotonia, dysmorphia, and hot water epilepsy. Read More

Radiologe 2021 May 8;61(5):433-439. Epub 2021 Apr 8.

Diagnostische und interventionelle Radiologie, Universitätsklinikum Tübingen, BG Unfallklinik Tübingen, Eberhard-Karls-Universität, Tübingen, Deutschland.

Clinical/methodical Issue: The carpal joint is one of the most complex joints in the body comprising multiple bones that allow flexibility while simultaneously providing stability. Variations in osseous structures that may be either cause or result of pathological changes may make radiological reporting challenging. Only the knowledge of important osseous variations allows a reliable assessment of carpal imaging studies. Read More

J Pediatr Endocrinol Metab 2021 Apr 16;34(4):531-534. Epub 2020 Dec 16.

Department of Pediatrics, Hospital Universitario Quironsalud, Madrid, Spain.

We present an unusual case of deficiency associated with Léri-Weill dyschondrosteosis (LWD), Hashimoto's thyroiditis and pseudohypoparathyroidism 1B in a young woman. To our knowledge, this is the first ever report of these disorders coexisting. At the age of nine years, the proband was diagnosed of hypothyroidism due to Hashimoto's thyroiditis, and developed biochemical abnormalities consistent with hyperphosphatemia, mild hypocalcemia and elevated parathyroid hormone without any clinical symptoms except short stature. Read More

J Hand Surg Eur Vol 2021 May 17;46(4):384-390. Epub 2021 Jan 17.

Shriners Hospitals for Children, Philadelphia Hand to Shoulder Center, Philadelphia, PA, USA.

In a retrospective multicentre study, we aimed to correlate clinical factors and findings on plain radiographs and MRI with the intraoperative presence of Vickers' ligament in Madelung's deformity. We screened the records, in which the absence or presence of Vickers' ligament was affirmatively indicated, of 75 consecutive operated extremities in 58 patients. In 83% a Vickers' ligament was observed intraoperatively. Read More

BMC Pediatr 2021 01 15;21(1):40. Epub 2021 Jan 15.

Department of Pediatrics, University of Zagreb School of Medicine, Zagreb, Croatia.

Background: The last two decades brought new treatment options and high quality guidelines into the paediatric rheumatologic practice. Nevertheless, a number of patients still present a diagnostic and therapeutic challenge due to combination of vague symptoms and unresponsiveness to available treatment modalities.

Case Presentation: We report a case of sixteen years old girl suffering from polyarticular type of juvenile idiopathic arthritis refractory to multiple treatment options. Read More

PeerJ 2020 17;8:e10236. Epub 2020 Nov 17.

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

Background: mutations have previously been described as causes of Léri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature. The loss of X chromosome-Turner syndrome or mosaic 45,X/46,XX or 46,XY-also leads to the heterozygous loss of in patients with short stature only or with features similar to LWD. The aim of this study was to assess the efficacy of the targeted screening for variants, which involved different methods in the laboratory analysis of short stature. Read More

Exp Clin Endocrinol Diabetes 2021 Aug 15;129(8):611-620. Epub 2020 Sep 15.

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul.

Background: The short-stature homeobox-containing gene () is one of the major growth genes in humans. The clinical spectrum of haploinsufficiency ranges from Léri-Weill dyschondrosteosis to idiopathic short stature. Herein, we describe the clinical and genetic characteristics of 23 Korean patients with deficiency disorders. Read More

J Hand Surg Am 2021 05 31;46(5):429.e1-429.e6. Epub 2020 Jul 31.

Department of Orthopaedic Surgery, Medical College of Wisconsin, Milwaukee WI.

Madelung deformity is a rare disease that affects the normal growth of the distal radius and occurs in 1.7% of all pediatric congenital hand deformities. It is characterized by progressive deformity and shortening of the radius at the distal radial physis owing to anomalous tethering of the ulnar-volar growth plate. Read More

J Diabetes Investig 2021 Mar 6;12(3):446-449. Epub 2020 Aug 6.

Department of Endocrinology and Metabolism, Institute of Endocrinology, Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning, 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 a classic triad, which are short stature, mesomelia and Madelung deformity. LWD also includes other features, such as high body mass index. Read More

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

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

J Clin Res Pediatr Endocrinol 2020 11 16;12(4):358-365. Epub 2020 Apr 16.

Ege University Faculty of Medicine, Department of Pediatric Genetics, İzmir, Turkey

Objective: gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS). The aim of this study was to describe the clinical features and molecular results of deficiency in a group of Turkish patients who had skeletal findings with and without short stature. Read More

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

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

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

J Clin Rheumatol 2020 Dec;26(8):e317-e318

From the Departments of Rheumatology.

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