1,657 results match your criteria Osteochondroma and Osteochondromatosis

A frameshift variant in the EXT1 gene in a feline leukemia virus-negative cat with osteochondromatosis.

Anim Genet 2022 Jun 20. Epub 2022 Jun 20.

Joint Graduate School of Veterinary Sciences, Gifu University, Gifu, Gifu, Japan.

Osteochondromatosis is a benign proliferative disorder characterized by cartilage-capped bony protuberances. In humans and most mammals, variants in the EXT1 or EXT2 gene are strongly correlated with the etiology of osteochondromatosis. However, in cats, osteochondromatosis has only been associated with feline leukemia virus infection. Read More

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Hereditary multiple exostoses: A case report and literature review.

SAGE Open Med Case Rep 2022 7;10:2050313X221103732. Epub 2022 Jun 7.

Department of Radiology, University of Medicine and Pharmacy, Hue University, Hue, Vietnam.

Osteochondroma is the most common bone tumor representing 20%-50% of all benign bone tumors and 10%-15% of all bone tumors. Osteochondroma has similar radiological appearance in both solitary and multiple forms; the latter is an autosomal dominant disorder termed hereditary multiple exostoses. Associated complications of osteochondroma include deformity, fracture, neurovascular compromise, bursa formation, and malignant transformation. Read More

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Computer Navigation-Aided Excision of Proximal Femoral Osteochondroma: Surgical Technique.

Comput Math Methods Med 2022 31;2022:7635945. Epub 2022 May 31.

Department of Orthopedic Oncology, Beijing Ji Shui Tan Hospital, No. 31 Xin jie kou Dong Jie, Xi Cheng District, Beijing 100035, China.

Purpose: Symptomatic osteochondroma of the proximal femur necessitates a surgical excision. The purpose of this study was to describe a novel technique of computer navigation-aided excision for osteochondromata of the proximal femur. Outcomes of this technique are also presented. Read More

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Osteochondromatosis: clinical variability and factors related to quality of life in children and adults.

Arch Argent Pediatr 2022 06;120(3):180-186

Servicio de Crecimiento y Desarrollo, Hospital de Pediatría S.A.M.I.C. "Prof. Dr. Juan P. Garrahan", Ciudad Autónoma de Buenos Aires, Argentina.

Introduction: Hereditary osteochondromatosis is an uncommon, autosomal, dominant condition characterized by the presence of multiple bone growths.

Objective: To analyze factors associated with health-related quality of life (HRQoL) among children > 2 years and adults receiving follow-up at a tertiary care children's hospital in Argentina.

Population And Methods: Cross-sectional study of a follow-up cohort. Read More

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Lower limb deformities and limb length discrepancies in hereditary multiple exostoses.

Acta Orthop Belg 2022 Mar;88(1):198-205

There is a high rate of lower limb deformity and limb length discrepancy in patients with hereditary multiple exostoses (HME). The aim of this study was to evaluate the type and frequency of lower limbs axial deviation and limb length discrepancy and the type of exostoses being risk factors for theses deformities. We retrospectively reviewed standing full-length radiograph of 32 HME patients (64 limbs) followed in our institution between October 2009 and December 2020. Read More

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Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.

Orphanet J Rare Dis 2022 04 23;17(1):174. Epub 2022 Apr 23.

Department of Human Genetics, CHU of Liège, Avenue de l'Hôpital 1, Sart-Tilman, 4000, Liège, Belgium.

Background: Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of clinical recommendations in such rare diseases. We report a new case and provide the first systematic review of all previous published cases. Read More

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A Case Report of Trevor's Disease in a Pediatric Patient with Hereditary Multiple Exostoses Disease.

J Orthop Case Rep 2021 Dec;11(12):39-43

Department of Orthopedic Surgery, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.

Introduction: Hereditary multiple exostoses (HME) disease is hallmarked by cartilaginous osteochondromas secondary to an autosomal dominant mutation within the exostosin gene family. These outgrowths predominantly occur around the long bone physis. An associated disease is dysplasia epiphysealis hemimelica also known as Trevor's disease. Read More

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December 2021

Ankle Mortise Instability in Multiple Hereditary Exostoses.

J Foot Ankle Surg 2022 Feb 24. Epub 2022 Feb 24.

Nationwide Children's Hospital, Columbus, OH. Electronic address:

Ankle valgus is commonly reported in patients with multiple hereditary exostoses (MHE). We report the characteristics of mortise widening in MHE, its progression over time, and the resultant ankle pain and function at skeletal maturity. Mortise medial space (M), talocrural angle (TC), and tibiotalar angle (TT) measurements were collected on preoperative and last follow-up radiographs. Read More

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February 2022

Hinge positioning method of Ilizarov apparatus in correcting radial head luxation caused by multiple hereditary exostoses.

Jt Dis Relat Surg 2022 28;33(1):40-50. Epub 2022 Mar 28.

Department of Orthopedics, Shanghai Sixth People's Hospital, 200233 Shanghai, China.

Objectives: In this study, we present a specified hinge positioning method to achieve satisfying and steerable lengthening and angulation to correct forearm multiple hereditary exostoses (MHE) combined with severe radiocapitellar joint dislocation using Ilizarov ring fixators.

Patients And Methods: Between January 2014 and December 2018, a total of 30 forearms of 23 patients (11 males, 12 females; mean age: 18.3±6. Read More

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Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation.

Mol Med Rep 2022 04 25;25(4). Epub 2022 Feb 25.

Department of Orthopedics, Shanghai Changhai Hospital, Shanghai 200433, P.R. China.

The aim of the present study was to report a clinical survey of hereditary multiple exostoses (HME) in a large Chinese pedigree, and the identification of a novel deletion mutation of exostosin glycosyltransferase 2 () gene. A patient with multiple exostoses with huge cartilage‑capped tumors in scapula, knees and ankles received surgery in Department of Orthopedics (Shanghai Changhai Hospital). A total of 20 family members were recruited to the study, with seven members (five male; two female) diagnosed as HME. Read More

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In Situ Hybridization of Feline Leukemia Virus in a Case of Osteochondromatosis.

Vet Sci 2022 Jan 31;9(2). Epub 2022 Jan 31.

Department of Pathology, University of Veterinary Medicine, 1078 Budapest, Hungary.

Osteochondromatosis, also known as multiple cartilaginous exostosis, polyostotic osteochondroma, and multiple osteochondromas, comprises one-fifth of all primary bone tumors in cats, with no breed or sex predisposition or hereditary pattern. Unlike in dogs, horses, and humans, it is predominantly seen in young cats (2-4 years old), after the maturation of the skeleton. Although the pathogenesis of osteochondromatosis is not fully understood, it is considered to be related to infection by feline leukemia virus (FeLV) or other retroviruses, such as the feline sarcoma virus. Read More

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January 2022

Potential influence of factors for genu valgus with hereditary multiple exostoses.

J Pediatr Orthop B 2022 Jul 14;31(4):365-370. Epub 2022 Feb 14.

Department of Orthopaedics, Children's Hospital of Soochow University, Suzhou, China.

Genu valgus is one of the most common limb deformities in hereditary multiple exostoses (HME). However, it is easily concealed and may account for subsequent osteoarthritis of the knee. The knees of 56 patients (33 men and 23 women) with HME were investigated bilaterally. Read More

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Surgical outcomes of spinal osteochondroma in children: A multicentre observational study.

Orthop Traumatol Surg Res 2022 Feb 9:103239. Epub 2022 Feb 9.

Service de chirurgie infantile à orientation orthopédique, Hôpital Universitaire Robert Debré, Assistance Publique-Hôpitaux de Paris (AP-HP), Université de Paris, 48, Bd Sérurier, 75019 Paris, France.

Background: Spinal osteochondroma (or exostosis) is a rare benign tumour whose clinical manifestations are delayed due to their slow growth and location. Few studies have addressed the characteristics and the diagnostic and therapeutic peculiarities of spinal osteochondroma in children. The objective of this multicentre observational study was to assess the outcomes of a cohort of children after surgery for spinal osteochondroma. Read More

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February 2022

Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.

Am J Med Genet A 2022 05 2;188(5):1482-1487. Epub 2022 Feb 2.

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

Genetic mosaicism caused by postzygotic mutations is of a great interest due to its role in human disease. Monozygotic twins arising from a single zygote are considered as genetically identical, and any differences likely to be caused by postzygotic events. Thus, phenotypically discordant monozygotic twins offer a unique opportunity to study genotype-phenotype correlation. Read More

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Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.

Mol Genet Genomic Med 2022 03 1;10(3):e1878. Epub 2022 Feb 1.

The Second Hospital, Shanxi Medical University, Taiyuan, China.

Background: Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage-covered tumors on the external surfaces of bones (osteochondromas). Most of HME cases result from heterozygous loss-of-function mutations in EXT1 or EXT2 gene.

Methods: Clinical examination was performed to diagnose the patients: Whole exome sequencing (WES) was used to identify pathogenic mutations in the proband, which is confirmed by Sanger sequencing and co-segregation analysis: qRT-PCR was performed to identify the mRNA expression level of EXT1 in patient peripheral blood samples: minigene splicing assay was performed to mimic the splicing process of EXT1 variants in vitro. Read More

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Osteochondroma Arising From the Inferior Articular Process of the Lumbar Spine in a Geriatric Patient: A Case Report and Literature Review.

Geriatr Orthop Surg Rehabil 2022 25;13:21514593211073028. Epub 2022 Jan 25.

Department of Orthopedics, The First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, China.

Objective: Spinal osteochondromas are rare, and approximately less than 5% occur as spinal lesions. We report the case of a solitary osteochondroma of the spine and review and update the literature on spinal osteochondroma, including surgical treatment and subsequent results.

Case Description: A 73-year-old female patient complained of a 10-year history of back pain and a 4-year history of right-side lower extremity radiating pain with paresthesia. Read More

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January 2022

Osteochondroma formation is independent of heparanase expression as revealed in a mouse model of hereditary multiple exostoses.

J Orthop Res 2022 Jan 7. Epub 2022 Jan 7.

Translational Research Program in Pediatric Orthopaedics, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Hereditary multiple exostoses (HME) is a rare, pediatric disorder characterized by osteochondromas that form along growth plates and provoke significant musculoskeletal problems. HME is caused by mutations in heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2. Seemingly paradoxically, osteochondromas were found to contain excessive extracellular heparanase (Hpse) that could further reduce HS levels and exacerbate pathogenesis. Read More

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January 2022

Intra-articular acetabular osteochondroma in patients with multiple hereditary exostoses.

J Pediatr Orthop B 2022 Jan;31(1):e90-e94

Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Republic of Korea.

We report three additional cases of intra-articular acetabular osteochondroma in multiple hereditary exostoses patients in order to raise the awareness of this rare location, to prompt early diagnosis, and to present various treatment options according to the patient's condition. A 2.5-year-old boy presenting with an out-toeing gait had a large acetabular osteochondroma causing lateral displacement of the femoral head and acetabular dysplasia. Read More

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January 2022

Rapidly acquired valgus deformity of the knee after osteochondroma resection in multiple hereditary exostoses pediatric patients: A report of two cases.

Radiol Case Rep 2022 Jan 12;17(1):201-207. Epub 2021 Nov 12.

Division of Pediatric Orthopedic Surgery, Hospital for Special Surgery, 535 E 70th st, New York, NY, 10021, USA.

Patients with multiple hereditary exostoses (MHE) often develop leg length discrepancies and limb alignment deformity around the knee as part of the natural course of the disease. Limb alignment deformity occurring post-resection of an osteochondroma has been described in one case report and only pertaining to the proximal medial tibia location. Here we describe the case of 2 patients with MHE, a 7-year-old female who underwent resection of distal femur and proximal tibia osteochondromas and a 9-year-old female who had a distal femur osteochondroma resected. Read More

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January 2022

Popliteal artery pseudoaneurysm caused by non-penetrating trauma in a patient with hereditary multiple osteochondromatosis.

Radiol Case Rep 2022 Jan 12;17(1):185-189. Epub 2021 Nov 12.

Radiology Department, Universidad El Bosque, Bogotá, Colombia.

Hereditary multiple osteochondromatosis is a genetic condition characterized by the appearance of numerous osteochondromas, which can cause pseudoaneurysms in rare cases. The following article describes a 15-year-old patient with a history of current massages as part of his gym routine, who arrived at the emergency department with 4 days of pain, and ecchymosis in the right popliteal region. Therefore, duplex ultrasonography and arteriography were performed, confirming the diagnosis of popliteal pseudoaneurysm, which was subsequently treated by open surgery, providing a satisfactory outcome. Read More

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January 2022

C1 C2 spinal cord compression in hereditary multiple exostoses: case report and review of the literature.

Int J Surg Case Rep 2021 Dec 3;89:106576. Epub 2021 Nov 3.

Department of Neurosurgery, Burns and Trauma Center, El Manar-Tunis University, Tunisia.

Introduction And Importance: Hereditary multiple exostoses (HME) is a benign disease, usually encountered in the metaphysis of long bones. On the opposite, spinal localizations are very rare. We herein describe a case of HME with a spinal cord compression. Read More

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December 2021

Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome.

Clin Dysmorphol 2022 Jan;31(1):28-30

Department of Radiology, Hacettepe University School of Medicine, Ankara, Turkey.

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January 2022

Modified osteotomy for treatment of forearm deformities (Masada IIb) in hereditary multiple osteochondromas: a retrospective review.

Ge Yan Guoxin Nan

BMC Musculoskelet Disord 2021 Nov 10;22(1):943. Epub 2021 Nov 10.

Department of Orthopaedics Children's Hospital of Chongqing Medical University, China, Yuzhong District Zhongshan 2road 136#, 400014, Chongqing, China.

Purpose: Approximately 30% of patients with hereditary multiple osteochondromas (HMO) have forearm deformity and dysfunction. The aim of this retrospective study was to review our experience with the surgical treatment of children with HMO and Masada IIb forearm deformities.

Methods: Data of eight children treated for HMO Masada IIb forearm deformity at our hospital between 2015 and 2019 were collected from the hospital records and retrospectively reviewed. Read More

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November 2021

Reconstruction using monorail fixator for forearm osteochondroma Masada type I and IIb: A case series.

Int J Surg Case Rep 2021 Nov 1;88:106464. Epub 2021 Oct 1.

Department of Orthopaedic and Traumatology, Universitas Sebelas Maret, Prof. Dr. R. Soeharso Orthopaedic Hospital, Surakarta, Indonesia.

Introduction: Osteochondroma (solitary) and multiple hereditary exostoses (plural) are defined as a cartilage-capped bony projection arising on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. These tumors grow slowly and develop to cause symptoms such as limited range of motion, joint pain, lumps, and deformities. The use of ulnar distraction osteogenesis has gained popularity in treating deformity in forearm osteochondroma. Read More

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November 2021

Incidental finding of hereditary multiple osteochondroma causing ischiofemoral impingement.

BMJ Case Rep 2021 Sep 13;14(9). Epub 2021 Sep 13.

Orthopaedics, Dubai Hospital, Dubai, UAE.

Ischiofemoral impingement (IFI) has been described in the medical literature as a cause of hip pain. IFI occurs due to an abnormal contact or reduced space between the lesser trochanter and the lateral border of the ischium and is an often unrecognised cause of pain and snapping in the hip. Association of multiple exostoses and a skeletal dysplasia characterised by an abnormal modelling of bone metaphysis and osseous deformities is highly characteristic of this disease. Read More

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September 2021

The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice.

Am J Med Genet A 2021 11 3;185(11):3466-3475. Epub 2021 Sep 3.

Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

Multiple osteochondromas (MO) is a rare disorder, characterized by benign osteocartilaginous tumors (osteochondromas), arising from the perichondrium of bones. The osteochondromas increase during growth, frequently causing deformities and limitations. Our study aims to analyze the data captured by the Registry of Multiple Osteochondromas, to refine Istituto Ortopedico Rizzoli (IOR) Classification, providing a representative picture of the phenotypic manifestations throughout the lifespan. Read More

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November 2021

Diaphyseal Aclasis With Pes Anserinus Syndrome.

Cureus 2021 Jul 21;13(7):e16548. Epub 2021 Jul 21.

Orthopaedics, All India Institute of Medical Science (AIIMS), Nagpur, IND.

We describe the case of a 20-year-old man who presented with a bony swelling over the medial proximal tibia that caused pain along the pes anserinus tendons, and a history of multiple asymptomatic bony swellings. Wide extraperiosteal resection of the swelling relieved the symptoms with a good outcome within a year. This report describes the pictorial pathoanatomy of a relatively rare association of pes anserinus syndrome caused by osteochondroma in an adult patient. Read More

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Mutational Analysis of in a Chinese Family Affected by Hereditary Multiple Osteochondroma.

Biomed Res Int 2021 6;2021:8888948. Epub 2021 Aug 6.

Department of Physical Examination/Health Management Department, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

Objectives: To discuss the mutational features and their relationships with disease in a family with hereditary multiple osteochondroma (HMO) from Guangxi Province (GXBB-1 family), China.

Methods: Genomic DNA and total mRNA were extracted from peripheral blood cells of GXBB-1 family members. Whole elements of the gene and its transcript, including exons, introns, exon-intron boundaries, and coding sequence (CDS) clones, were amplified and sequenced. Read More

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September 2021

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing.

J Clin Lab Anal 2021 Sep 17;35(9):e23968. Epub 2021 Aug 17.

Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

Background: Hereditary multiple exostoses (HME), also referred to as multiple osteochondromas, is an autosomal dominant skeletal disease characterized by the development of multiple overgrown benign bony tumors capped by cartilage and is associated with bone deformity, joint limitation, and short stature. Mutations in exostosin glycosyltransferase (EXT)1 and EXT2 genes, which are located on chromosomes 8q24.1 and 11p13, contribute to the pathogenesis of HME. Read More

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September 2021