Madelung deformity

BACKGROUND: Madelung's deformity is a congenital or acquired growth disorder of the forearm that can lead to significant impairments in the quality of life of affected patients. Various surgical treatment options for the condition have been described in the literature. This study aimed to investigate whether physiolysis with resection of the Vickers ligament can successfully halt the progression of the disease in a cohort of young patients, as would be expected based on existing literature on this topic...

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PURPOSE: This study seeks to investigate demographics of patients with Madelung deformity in a large, geographically diverse sample and understand patient and caregiver perceptions of the impact of this condition. We hypothesized that patients with untreated Madelung deformity have greater pain and lower function compared to the normal population but are less affected than the chosen control group, namely, patients with proximal radioulnar synostosis (PRUS). METHODS: This retrospective study queried the Congenital Upper Limb Differences (CoULD) Registry, a multicenter registry of patients treated in tertiary care pediatric hospitals...

OBJECTIVE: The aim of the study was to investigate the 3.0 Tesla magnetic resonance imaging (MRI) features of Madelung's deformity. MATERIALS AND METHODS: The wrist MRI scans of 19 patients clinically diagnosed with Madelung's deformity and 20 patients without deformity were consecutively selected from Beijing Jishuitan Hospital between April 2019 and December 2022 for observation, in the case group and control group, respectively. Multiple linear regression was used to analyze the factors affecting tilting angle and width of central disc (CD, also termed as triangular fibrocartilage, the main component of triangular fibrocartilage complex), while the chi-square test was used to compare the occurrences of CD (radial) attachment displacement, VL, and RTL...

A 15-year-old boy presented to an outpatient sports medicine clinic with mysterious wrist pain for three months. Imaging diagnosed this mysterious wrist pain as a Madelung deformity, a rare condition characterized primarily by the early cessation of growth in the volar-ulnar distal physis of the radius. Patients may present with restricted wrist range of motion, pain, and ulnar tenderness, but they may also be asymptomatic. Traditionally, treatment is surgical, but this case was managed with conservative measures primarily, with improvements in both function and outcomes...

An anomalous flexor carpi radialis brevis (FCRB) muscle was present in four of nine patients undergoing surgery for Madelung's deformity. This disproportionately frequent finding suggests an embryologic dysgenesis of forearm formation rather than a developmental tethering of Vicker's ligament. Level of evidence: IV (case series).

A 41-year-old female patient sought medical attention due to a malunited distal radius fracture with a positive ulnar variance, experiencing wrist pain and limited range of motion. The patient was successfully treated with an isolated ulnar osteotomy and bone grafting, resulting in significant alleviation of symptoms and improved wrist mobility. Various surgical methods have been proposed to address malunited radius fractures, and ulnar osteotomy has shown promise as an effective technique for such cases.

We present a female patient with a complex sex chromosomal rearrangement [GRCh38] Xp22.33(10701_981101)x1,Yq11.221q11.23(13948013_26483746)x1 who conceived spontaneously and carried a healthy pregnancy to term. The patient presented with extreme short stature (more than 4SD below expected) and a bilateral Madelung deformity suggesting a possible SHOX deletion. The patient was otherwise medically well. This patient's short stature was found to be a result of a complex chromosome rearrangement involving a partial X chromosome deletion, which included the SHOX gene and a gain of Y chromosomal material...

Madelung deformity remains a fascinating yet unresolved challenge. There is an increasing awareness for early diagnosis by healthcare providers with improvement in diagnostic modalities, however, the exact mechanisms for the development of the deformity have still to be clarified. While some corrective procedures have been described to effectively address an established deformity, the existing literature lacks clear and evidence-based treatment guidelines on how to proceed in daily practice. This review article aims to summarize the current best evidence on this topic, including particular areas of controversy and areas with need for future research...

In this paper, a review of the literature was performed to critically evaluate relevant published research on diagnosis and treatment of Madelung's deformity. Madelung's deformity is a metaphyseal dysplasia of the distal radius, where the distal radial joint tilts to the volar and ulnar sides, combined with distal ulnar subluxation and elbow dislocation. The main pathogenic factors of this disease include idiopathic, hereditary and acquired factors. So far, it is believed that Madelung's deformity is mainly associated with trauma, epiphyseal dysplasia, nutritional disorders, and gene deletion or mutation...

OBJECTIVE: To explore the intrauterine phenotypic spectrum of short stature homeobox-containing (SHOX) gene-associated skeletal dysplasia and provide genetic counseling at-risk pregnancies. METHOD: We analyzed the fetuses with SHOX-microdeletions identified by single nucleotide polymorphism (SNP)-array. The intrauterine phenotypes and outcomes were further elaborated. RESULTS: Nine fetuses carrying a single SHOX-microdeletion were reported, with deletion sizes ranging from 0...

OBJECTIVE: To investigate the effectiveness of sequential plate internal fixation in the correction of Madelung deformity after ulnar osteotomy and shortening. METHODS: The clinical data of 13 patients with Madelung deformity admitted between September 2015 and July 2021 were retrospectively analyzed. There were 5 males and 8 females with an average age of 18.3 years ranging from 17 to 23 years. The disease duration ranged from 12 to 24 months, with an average of 17 months...

INTRODUCTION AND IMPORTANCE: Madelung disease is a rare condition of unknown etiology, characterized by large masses of subcutaneous fat in the upper body bilaterally. It rarely affects the lower extremities and genital region. CASE PRESENTATION: Here, we report a patient with Donhouser's type III Madelung's disease. A 47-year-old male patient presented with a giant fatty scrotal tumor that caused deformation of the scrotum and penis, made it difficult to perform daily activities, and hindered sexual activity...

UNLABELLED: The authors presented a treatment option for Madelung's deformity due to physeal growth arrest of the distal ulna after Kirschner wire (K-wire) fixation for pediatric forearm fractures. CASE PRESENTATION: A boy, 16 years old, suffered from a close fracture of the middle third of the left radius and ulna and was treated with open reduction and internal fixation (ORIF) pinning with intramedullary K-wires. Eight months after surgery, the implant was removed...

PURPOSE: Surgical treatment of Madelung deformity can present challenges due to a need for multiplanar correction. Developing customized cutting guides for osteotomies may improve surgical outcomes by enhancing the surgeon's understanding and surgical correction. METHODS: All patients who underwent forearm osteotomies for Madelung deformity using computed tomography planning with 3-dimensional-printed customized cutting guides were retrospectively reviewed (n = 8)...

OBJECTIVE: SHOX haploinsufficiency have been commonly found in isolated short stature (ISS) and Léri-Weill dyschondrosteosis (LWD) patients. However, few publications have described the genetic analysis and clinical characteristics of fetuses with SHOX haploinsufficiency. METHODS: Chromosomal microarray (CMA) were applied in 14,051 fetuses and sequentially whole exome sequence (WES) in 1340 fetuses who underwent prenatal diagnosis during 2016-2021. The analysis and summary of molecular genetics, sonographic characteristics, and follow-up results were performed in fetuses with SHOX haploinsufficiency without other genetic etiologies...

We explore a case of Benign Paroxysmal Positional Vertigo in the context of Persistent Hypoglossal Artery (PHA) and bilateral Madelung Deformity (MD). PHA is associated with a raft of major adverse cardiovascular events. MD can result from manifold conditions such as Turner's Syndrome and mesomelic dwarfism. In this case, the patient's positive family history of MD across generations is suggestive of inherited mutation in the Short Stature Homeobox (SHOX) Gene. We discuss the putative impact of SHOX on the genesis of Benign Paroxysmal Positional Vertigo (BPPV) in a patient with PHA and bilateral MD...

Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis physiology. We present a kindred of five children evaluated for short stature or low normal stature, initially diagnosticated as idiopathic short stature, familial short stature, or being small for gestational age. Clinical signs suggestive of SHOX deletion screening in a child with short stature are low arm span/height ratio, increased sitting height/height ratio, BMI > 50% percentile, Madelung deformity, cubitus valgus, bowing and shortening of the forearm, dislocation of the ulna (at the elbow), and the appearance of muscular hypertrophy...

We report a patient with mature Madelung deformity who underwent radial and ulnar corrective osteotomy using three-dimensional (3D) simulation. An osteotomy model was created using the computer-aided design (CAD) software based on the computed tomography (CT) data. After correcting the ulna, the osteotomy angle of the radius was determined using the location of the lunate as a landmark in the 3D plane created by the longitudinal axis of the corrected ulna. Consequently, the ulna was flexed 3° and shortened by 5 mm, and the radius was extended at 36° and ulna deviated at 25° by open wedge osteotomy...

INTRODUCTION: The purpose of this study was the evaluation of surgical outcomes in a series of wrists with Madelung's deformity treated with radial corrective osteotomy. We hypothesize that this surgical technique is a suitable and safe way of treatment. MATERIALS AND METHODS: A retrospective review of patients with Madelung's deformity treated with radial corrective osteotomy between January 2001 and June 2017 at a single large department of hand surgery in Germany was performed...