1,601 results match your criteria Osteochondroma and Osteochondromatosis

[Analysis of genetic variants in a pedigree affected with hereditary multiple osteochondroma].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Jun;38(6):549-552

Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University, Fuzhou, Fujian 350007, China.

Objective: To explore the genetic basis for a pedigree affected with hereditary multiple osteochondroma (HMO).

Methods: Peripheral blood samples were collected from the proband and members of his pedigree with informed consent. Following extraction of genomic DNA, all coding exons and flanking intronic sequences (-10 bp) of the EXT1 and EXT2 genes were subjected to targeted capture and next generation sequencing (NGS). Read More

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Clinical differences between central and peripheral chondrosarcomas.

Bone Joint J 2021 May;103-B(5):984-990

Department of Orthopaedics, Royal Orthopaedic Hospital, Birmingham, UK.

Aims: Chondrosarcoma is the second most common primary sarcoma of bone: conventional chondrosarcoma accounts for 85% of all cases. Conventional chondrosarcoma may be central or peripheral. Most studies group central and peripheral chondrosarcomas together, although there is growing evidence that their clinical behaviour and prognosis differ. Read More

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Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.

Orphanet J Rare Dis 2021 02 25;16(1):100. Epub 2021 Feb 25.

Department of Genetics, MBC 3, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.

Background: Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin glycosyltransferase 1 (EXT1) and exostosin glycosyltransferase 2 (EXT2). The genetic defects have not been studied in the Saudi patients.

Aim Of Study: We investigated mutation spectrum of EXT1 and EXT2 in 22 patients from 17 unrelated families. Read More

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February 2021

Lumbar Myelopathy Caused by Multiple Cartilaginous Exostoses in a Dog.

Top Companion Anim Med 2021 Feb 23;44:100529. Epub 2021 Feb 23.

Diagnostic Imaging Sector, Departament of Clinic and Surgery, Veterinary School Escola de Veterinária da Universidade Federal de Minas Gerais, Brazil. Electronic address:

A 6-months-old male mixed-breed dog was admitted to the veterinary hospital with lameness in the right pelvic limb, proprioceptive ataxia, and suspected spinal cord injury in the lumbosacral segment. Upon palpation, firm nodules were noted on the bony surface of the thoracic and pelvic limbs, ribs, vertebrae, and tail. The radiographic study showed nodules of low radiopacity with well-defined limits and smooth contours, one of which was overlapping the fifth lumbar vertebra. Read More

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February 2021

Arthroscopic Anterior Cruciate Ligament Reconstruction in a Case of Multiple Osteochondromatosis: A Case Report.

J Orthop Case Rep 2020 Jul;10(4):31-34

Department of Orthopaedics, Topiwala National Medical College and B.Y.L. Nair Charitable Hospital, Mumbai, Maharashtra, India.

Introduction: Osteochondroma is the most common benign bone tumor and usually occurs in the metaphyseal region of the long bones. Anterior cruciate ligament (ACL) tear is the most common ligament injury of the knee joint, and reconstruction of the ACL is the most commonly performed procedure in the knee joint nowadays.

Case Presentation: A 26-year-old male with multiple osteochondromas around the knees, shoulders, and ankles presented with a chronic ACL injury. Read More

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Osteochondromas: An Updated Review of Epidemiology, Pathogenesis, Clinical Presentation, Radiological Features and Treatment Options.

In Vivo 2021 Mar-Apr;35(2):681-691

Anatomy - Histology - Embryology, University of Ioannina, Ioannina, Greece.

Osteochondroma, the most common benign bone tumor, is a projection on the external surface of the bone, which can be sessile or pedunculated. 85% of osteochondromas present as solitary lesions, while 15% occur in the context of hereditary multiple exostoses (HME), a genetic disorder that is inherited in an autosomal dominant manner. Although often asymptomatic, symptoms may eventuate from compression of adjacent vessels or nerves, fractures, osseous deformities, bursa formation, or malignant transformation. Read More

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Characteristics of hip impingement syndrome in patients with multiple hereditary exostoses.

BMC Musculoskelet Disord 2021 Feb 6;22(1):153. Epub 2021 Feb 6.

Department of Orthopaedic Surgery, Chonnam National University Hospital, Chonnam National University School of Medicine, 42 Jebongro, Donggu, Gwangju, 501-757, South Korea.

Backgrounds: This study aimed to investigate the characteristic deformities of the hip in multiple hereditary exostoses patients (MHE) and its association with the hip impingement syndrome.

Materials And Methods: Between 2001 and 2019, total 51 patients (102 hips) were evaluated in this study. Patients with MHE were classified to femoro-acetabular impingement (FAI) symptom group, ischio-femoral impingement (IFI) symptom group and non-impingement symptom group by comparing the symptoms, clinical signs and imaging studies. Read More

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February 2021

An unusual example of hereditary multiple exostoses: a case report and review of the literature.

BMC Musculoskelet Disord 2021 Jan 21;22(1):96. Epub 2021 Jan 21.

Human Anatomy Resource Centre, University of Liverpool, Sherrington Building, Ashton Street, Liverpool, L69 3GE, UK.

Background: Hereditary multiple exostoses (HME) is a rare skeletal disorder characterised by a widespread. distribution of osteochondromas originating from the metaphyses of long bones.

Case Presentation: This case study examines a 55-year-old male cadaver bequeathed to the University of Liverpool who suffered from HME, thus providing an exceptionally rare opportunity to examine the anatomical changes associated with this condition. Read More

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January 2021

The Incidence of Vertebral Exostoses in Multiple Hereditary Exostoses and Recommendations for Spinal Screening.

J Pediatr Orthop 2021 Mar;41(3):e226-e231

Shriners Hospitals for Children, Houston, TX.

Background: Multiple hereditary exostoses (MHE) lead to the development of pedunculated or sessile osteocartilaginous lesions. Vertebral involvement occurs in MHE and encroaching intracanal exostoses can result in devastating consequences. Magnetic resonance imaging (MRI) of the entire spine has been used to screen for vertebral exostoses to detect high-risk patients. Read More

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Older age and multi-joint external fixator are two risk factors of complications in ulnar lengthening in children with hereditary multiple exostosis.

J Orthop Surg Res 2020 Nov 23;15(1):555. Epub 2020 Nov 23.

Department of Orthopaedics, Children's Hospital of Chongqing Medical University, 136 Zhongshan 2nd Rd., Chongqing, 400014, People's Republic of China.

Objectives: Hereditary multiple exostosis (HME) often involves forearm deformities. The aim of this study was to present the clinical results of 37 children who underwent ulnar lengthening with two different types of unilateral external fixators and to investigate the risk factors of complications.

Methods: We evaluated 37 children with forearm deformities caused by HME treated in our hospital from January 2008 to July 2019. Read More

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November 2020

Trigger finger due to phalangeal osteochondroma of an adult: A case report.

J Orthop Surg (Hong Kong) 2020 Sep-Dec;28(3):2309499020969991

Department of Orthopedic Surgery, School of Medicine, 65433Wonkwang University Hospital, Iksan, Korea.

Trigger finger is stenosing tenosynovitis that occurs in A1 pulley. It usually occurs idiopathically in patients' 40s and 50s. On the other hand, pediatric trigger finger usually occurs before 8 years old in pediatric patients. Read More

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Combined orthodontic and surgical treatment for a patient with Hallermann-Streiff-Francois syndrome, severe obstructive sleep apnea, and history of antiresorptive medication.

Am J Orthod Dentofacial Orthop 2021 Jan 11;159(1):97-107. Epub 2020 Nov 11.

Section of Orthodontics and Craniofacial Biology, Department of Dentistry, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

Micrognathia and retrognathia, as observed in patients with the Hallermann-Streiff-Francois syndrome, might result in obstructive sleep apnea syndrome. When it becomes severe (apnea-hypopnea index [AHI], ≥30), noninvasive treatment options might be insufficient. An orthognathic treatment with mandibular advancement will increase the upper airway volume, which results in a decrease of apneas. Read More

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January 2021

Foramen magnum osteochondroma causing myelopathy in a patient with hereditary multiple exostoses.

Surg Neurol Int 2020 18;11:296. Epub 2020 Sep 18.

Department of Neurosurgery, Salford Royal Foundation Trust, Manchester, United Kingdom.

Background: Osteochondromas are commonly occurring benign bone tumors which may be either a solitary lesion or occur due to association with hereditary multiple exostoses (HMEs). There have been several reported cases of spinal osteochondromas, but intracranial lesions are rare.

Case Description: A 51-year-old male with a history of multiple osteochondromas presented with myelopathy. Read More

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September 2020

Peroneal Nerve Function Before and Following Surgical Excision of a Proximal Fibular Osteochondroma.

J Pediatr Orthop 2021 Jan;41(1):61-66

Department of Orthopaedic Surgery, Texas Scottish Rite Hospital, University of Texas Southwestern Medical Center, Dallas, TX.

Background: Osteochondromas occur most commonly in the distal femur, proximal tibia, and humerus. There are no large studies reviewing the outcome of treatment for patients with an osteochondroma involving the proximal fibula. The purpose of this study is to specifically understand the manifestations of a proximal fibular osteochondroma (PFO) on the preoperative peroneal nerve function, and how surgical management of the osteochondroma affects function immediately postoperatively and at long-term follow-up. Read More

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January 2021

Longitudinal Observation of Changes in the Ankle Alignment and Tibiofibular Relationships in Hereditary Multiple Exostoses.

Diagnostics (Basel) 2020 Sep 25;10(10). Epub 2020 Sep 25.

Division of Pediatric Orthopaedic Surgery, Severance Children's Hospital, Yonsei University College of Medicine, Seoul 03722, Korea.

The longitudinal changes in the tibiofibular relationship as the ankle valgus deformity progresses in patients with hereditary multiple exostoses (HME) are not well-known. We investigated the longitudinal changes and associating factors in the tibiofibular relationship during the growing period. A total of 33 patients (63 legs) with HME underwent two or more standing full-length anteroposterior radiographs. Read More

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September 2020

Anesthesia for Stüve-Wiedemann syndrome: a rare adult patient case report.

J Appl Genet 2020 Dec 10;61(4):571-573. Epub 2020 Sep 10.

Department of Anesthesiology, Centro Hospitalar de Lisboa Ocidental, Estrada Forte do Alto Duque, 1449-005, Lisbon, Portugal.

Stüve-Wiedemann syndrome (SWS) is a rare genetic disorder characterized by skeletal dysplasia and severe dysautonomia, evidencing a difficult airway approach and likely increased malignant hyperthermia susceptibility. Developmental dysmorphism classically worsens with age, therefore translating in a poor prognosis. In this article, we describe a case of a 27-year-old woman diagnosed with SWS proposed for abscess drainage under dissociative anesthesia. Read More

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December 2020

Heparan sulfate deficiency leads to hypertrophic chondrocytes by increasing bone morphogenetic protein signaling.

Osteoarthritis Cartilage 2020 11 18;28(11):1459-1470. Epub 2020 Aug 18.

Department of Orthopaedic Surgery, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, Japan. Electronic address:

Objective: Exostosin-1 (EXT1) and EXT2 are the major genetic etiologies of multiple hereditary exostoses and are essential for heparan sulfate (HS) biosynthesis. Previous studies investigating HS in several mouse models of multiple hereditary exostoses have reported that aberrant bone morphogenetic protein (BMP) signaling promotes osteochondroma formation in Ext1-deficient mice. This study examined the mechanism underlying the effects of HS deficiency on BMP/Smad signaling in articular cartilage in a cartilage-specific Ext mouse model. Read More

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November 2020

Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Mol Med Rep 2020 Sep 6;22(3):2469-2477. Epub 2020 Jul 6.

Department of Pediatric Orthopedics, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong 510623, P.R. China.

Although the main causative genes for hereditary multiple exostoses (HME) are exostosin (EXT)‑1 and EXT‑2, there are numerous patients with HME without EXT‑1 and EXT‑2 mutations. The present study aimed to identify novel candidate genes for the development of HME in patients without EXT‑1 and EXT‑2 mutations. Whole‑exome sequencing was performed in a Chinese family with HME and without EXT‑1 and EXT‑2 mutations, followed by a combined bioinformatics pipeline including annotation and filtering processes to identify candidate variants. Read More

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September 2020

A Novel Nonsense Mutation in the Gene Identified in a Family with Hereditary Multiple Osteochondromas.

Genet Test Mol Biomarkers 2020 Aug 15;24(8):478-483. Epub 2020 Jul 15.

Department of Orthopedics and Joint Surgery, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, P.R. China.

Identification of genetic mutations linked to hereditary multiple osteochondromas (HMO) is crucial for understanding the molecular mechanisms leading to disease pathogenesis. In this study, we investigated four patients and eight healthy individuals from a family with HMO. Clinical HMO data and Sanger sequences of the coding regions of the exostosin glycosyltransferase 1 () gene (18q24. Read More

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Large sternal exostoses presenting as stridor: A surgical and anesthetic challenge.

J Card Surg 2020 Sep 11;35(9):2388-2391. Epub 2020 Jul 11.

Department of Anaesthesiology and Critical Care, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

Background And Aims: Large osteochondroma arising from chest wall and sternum is uncommon and presentation with airway compression is further uncommon.

Methods: Here we present a case of large chest wall osteochondroma as a part of hereditary multiple exostoses in a 9-year-old boy presented with a history of stridor and shortness of breath. The bony mass of the right chest wall was extending up to a suprasternal notch and compressing the trachea. Read More

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September 2020

An analysis of osteoporosis in patients with hereditary multiple exostoses.

Osteoporos Int 2020 Dec 8;31(12):2355-2361. Epub 2020 Jul 8.

Department of Orthopaedic Surgery, Gifu University, Graduate School of Medicine, 1-1, Yanagido, Gifu, 501-1194, Japan.

We analyzed osteoporosis in 20 HME patients. According to the T-score of BMD, 30% and 67.5% of the patients fell in the range of osteopenia in the lumbar spine and femoral neck. Read More

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December 2020

[Genetic analysis of five pedigrees affected with multiple osteochondromas].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Jul;37(7):717-720

Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To detect variants of EXT1 and EXT2 genes among five pedigrees affected with multiple osteochondromas and provide prenatal diagnosis for the families based on the results.

Methods: The EXT1 and EXT2 genes of the probands were analyzed by targeted next generation sequencing (NGS). Suspected pathological variants were validated by Sanger sequencing in the probands, their family members and 200 unrelated healthy controls. Read More

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The natural history of multiple osteochondromas in a large Italian cohort of pediatric patients.

Bone 2020 10 24;139:115499. Epub 2020 Jun 24.

Department of Medical Genetics and Rare Orthopedic Diseases and CLIBI Laboratory, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address:

Importance: Multiple osteochondromas is a rare hereditary skeletal disorder, characterized by bony protrusions arising from growth plates on long bones during skeletal development. The disorder frequently leads to diminished stature, deformities and functional limitations. Understanding of the natural history of multiple osteochondromas and its evolution in children and adolescents is limited. Read More

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October 2020

An unusual diagnosis for an usual test.

Ital J Pediatr 2020 Jun 10;46(1):81. Epub 2020 Jun 10.

Institute for Maternal and Child Health "IRCCS Burlo Garofolo", Trieste, Italy.

Background: Hereditary multiple osteochondromas (HMO) is a genetic condition characterized by the presence of multiple osteochondromas, usually at the lateral side of the most active growth plate of a long bone. These lesions may persist, be asymptomatic during childhood, and may increase in number and size until growth plates close. Therefore, diagnosis of HMO in children and young people can be challenging; while short stature can be more evident at the onset of puberty, asymptomatic ostheocondromas can progress into different degrees of orthopedic deformity. Read More

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Radiographic characteristics of the hip joint in skeletally mature patients with multiple hereditary exostoses.

Skeletal Radiol 2020 Nov 30;49(11):1773-1779. Epub 2020 May 30.

Department of Orthopaedic Surgery, Graduate School of Medicine, Gifu University, 1-1, Yanagido, Gifu, 501-1194, Japan.

Objective: To elucidate the radiological characteristics of the hips, especially in proximal femur, of skeletally mature patients with multiple hereditary exostoses (MHE).

Materials And Methods: Fifty eligible patients (100 hips) were included in the study and assigned to the MHE group. The control group included age- and sex-matched individuals, and the radiographs of 100 hips were used as controls. Read More

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November 2020

Cervical osteochondroma: surgical planning.

Spinal Cord Ser Cases 2020 05 28;6(1):44. Epub 2020 May 28.

Department of Neurological Surgery, Kaiser Permanente Orange County, 3460 E La Palma Ave, Anaheim, CA, 92806, USA.

Introduction: Osteochondromas are benign bone tumors which occur as solitary lesions or as part of the syndrome multiple hereditary exostoses. While most osteochondromas occur in the appendicular skeleton, they can also occur in the spine. Most lesions are asymptomatic however some may encroach on the spinal cord or the nerve roots causing neurological symptoms. Read More

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Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing.

Hereditas 2020 May 23;157(1):23. Epub 2020 May 23.

Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, China.

WAGR 11p13 deletion syndrome is associated with abnormalities including (W) ilms tumor, (A) niridia, (G) enitourinary abnormalities, and growth and mental (R) etardation (WAGR). Potocki-Schaffer syndrome is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses, parietal foramina development delay, mental retardation, and facial dysmorphism. Read More

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Synovial sarcoma presenting as an intra-articular mass in a pediatric patient: a case report.

BMC Musculoskelet Disord 2020 May 7;21(1):283. Epub 2020 May 7.

Department of Orthopaedics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Background: Synovial sarcoma (SS) is one of the reported sarcomas in the pediatric and adult populations. Delay in diagnosis and treatment is common in SS cases. SS may be excised before the correct diagnosis is made. Read More

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Prospective spine at risk program for prevalence of intracanal spine lesions in pediatric hereditary multiple osteochondromas.

Spine Deform 2020 10 4;8(5):1069-1074. Epub 2020 May 4.

Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, USA.

Study Design: Retrospective cohort study OBJECTIVES: To determine prevalence of hereditary multiple osteochondromas (HMO) and utility of MRI surveillance in a prospective Spine at Risk (SAR) program. Unidentified intraspinal exostoses in HMO can lead to neurologic injury in children during sedated procedures but no MRI guidelines exist. We sought to determine the prevalence and age of intraspinal exostoses from MRIs, and indications for MRI surveillance. Read More

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October 2020

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.

Orthop Surg 2020 Jun 15;12(3):990-996. Epub 2020 Apr 15.

Department of Orthopaedics, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.

Objective: To find novel potential gene mutations other than EXT1 and EXT2 mutations, to expand the mutational spectrum of EXT and to explore the correlation between clinical outcome and genotype in patients with hereditary multiple exostoses (HME).

Methods: The study recruited seven families diagnosed with multiple osteochondromas (MO). Family histories and clinical information were collected in detail through comprehensive physical and image examination. Read More

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