1,557 results match your criteria Osteochondroma and Osteochondromatosis


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

J Card Surg 2020 Jul 11. 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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http://dx.doi.org/10.1111/jocs.14770DOI Listing

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

Skeletal Radiol 2020 May 30. 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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http://dx.doi.org/10.1007/s00256-020-03482-0DOI Listing

Cervical osteochondroma: surgical planning.

Spinal Cord Ser Cases 2020 May 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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http://dx.doi.org/10.1038/s41394-020-0292-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7256042PMC

Solitary osteochondroma of the cervical spine presenting with quadriparesis and hand contracture.

Surg Neurol Int 2020 21;11:51. Epub 2020 Mar 21.

Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, United States.

Background: Spinal osteochondromas are rare, benign tumors arising from the cartilaginous elements of the spine that may appear as solitary lesions versus multiple lesions in patients with hereditary multiple exostoses. Here, we present a 15-year-old female with a solitary C3-C4 osteochondroma who presented with a progressive quadriparesis and hand contracture successfully managed with a laminectomy/posterior spinal fusion.

Case Description: A 15-year-old female presented with a 3-month history of progressive quadriparesis and hand contracture secondary to a magnetic resonance (MR) documented C3-C4 cervical spine osteochondroma. Read More

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http://dx.doi.org/10.25259/SNI_3_2020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7110287PMC

Extra-articular synovial osteochondroma of the Hoffa's fat pad involving the patellar tendon: A case report and literature review.

Mol Clin Oncol 2020 Apr 18;12(4):355-357. Epub 2020 Feb 18.

Department of Orthopedic Surgery, Kindai University Hospital, Osaka-Sayama, Osaka 589-8511, Japan.

Synovial osteochondroma (SO) is a relatively uncommon tumor affecting the synovial joints that is characterized by the development of hyaline cartilage from the synovial membrane. The basic pathophysiology of SO is thought to be the metaplastic change of the synovium to hyaline cartilage. Large extra- or para-articular lesions in the Hoffa's fat pad are relatively uncommon. Read More

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http://dx.doi.org/10.3892/mco.2020.1998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057915PMC

Spinal Screening MRI Trends in Patients with Multiple Hereditary Exostoses: National Survey.

Cureus 2019 Dec 23;11(12):e6452. Epub 2019 Dec 23.

Orthopaedics, Stanford University, Palo Alto, USA.

Background Multiple hereditary exostoses (MHE) is a rare disease characterized by multiple osteochondromas. Osteochondromas growing into the spinal canal can produce devastating consequences, including permanent neurologic deficits and even death. Routine screening of the entire spinal canal with magnetic resonance imaging (MRI) is a controversial topic lacking a clear consensus or recommendation to guide decision-making. Read More

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http://dx.doi.org/10.7759/cureus.6452DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975245PMC
December 2019

Sarcomatous Transformation of Recurrent Scapular Osteochondroma in a Patient with the Hereditary Multiple Osteochondromas: A Case Report and Literature Review.

Cureus 2019 Dec 6;11(12):e6308. Epub 2019 Dec 6.

Radiology, Quaid-e-Azam International Hospital, Islamabad, PAK.

Hereditary multiple osteochondromas (HMO) is an autosomal dominant disease diagnosed by the presence of two or more than two osteochondromas on radiographs. The majority of cases are asymptomatic. The presence of bony growth, pain, and compression of the surrounding structure are the usual presentations. Read More

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http://dx.doi.org/10.7759/cureus.6308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944176PMC
December 2019

Wilkes Stage IV Internal Derangement-An Osteochondromatosis of Condyle.

Ann Maxillofac Surg 2019 Jul-Dec;9(2):478-480

Department of Oral and Maxillofacial Surgery, Sri Ramachandra University, Chennai, Tamil Nadu, India.

Osteochondroma (OC) or osteocartilaginous exostosis is characterized by cartilage capped, osseous projection protruding from the surface of affected bone. OC is the most common tumor of skeletal bones. This benign tumor can occur as a part of autosomal dominant syndrome called osteochondromatosis. Read More

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http://dx.doi.org/10.4103/ams.ams_27_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933980PMC
January 2020

Hereditary Multiple Exostoses: Current Insights.

Orthop Res Rev 2019 13;11:199-211. Epub 2019 Dec 13.

Department of Translational Research on New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.

Hereditary multiple exostoses (HME), also called hereditary multiple osteochondromas, is a rare genetic disorder characterized by multiple osteochondromas that grow near the growth plates of bones such as the ribs, pelvis, vertebrae and especially long bones. The disease presents with various clinical manifestations including chronic pain syndromes, restricted range of motion, limb deformity, short stature, scoliosis and neurovascular alteration. Malignant transformation of exostosis is rarely seen. Read More

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http://dx.doi.org/10.2147/ORR.S183979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916679PMC
December 2019

Total hip arthroplasty in hereditary multiple exostoses with secondary osteoarthritis: A case report.

Medicine (Baltimore) 2019 Nov;98(48):e18175

Department of Orthopedic Surgery, Soonchunhyang University Hospital Cheonan, Cheonan.

Rationale: Hereditary multiple exostoses (HME) is an autosomal dominant disease that causes multiple exostoses throughout the body. It usually occurs around the metaphysis of the long bones, and when it involves the hip, symptoms arise due to deformity and the mass effect. If the lesion does not involve the joint or is not associated with arthritis, symptoms can be relieved by surgical excision of the osteochondroma. Read More

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http://dx.doi.org/10.1097/MD.0000000000018175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6890341PMC
November 2019

Coronal malalignment of lower legs depending on the locations of the exostoses in patients with multiple hereditary exostoses.

BMC Musculoskelet Disord 2019 Nov 25;20(1):564. Epub 2019 Nov 25.

Department of Orthopedic Surgery, Chonnam National University Hospital, 42 Jebongro, Donggu, Gwangju, 501-757, Republic of Korea.

Backgrounds: Though malalignment of lower legs is a common pathologic phenomenon in multiple hereditary exostoses (MHE), relationship between locations of exostoses and malalignment of lower legs remains unclear. This study examined radiographs of MHE patients in an attempt to evaluate the tendency of coronal malalignment of lower legs with different location of exostoses on lower legs consisting of two parallel long bones.

Methods: Between 2000 and 2017, we retrospectively reviewed the anteroposterior films of the teleo-roentgenographics of 63 patients with MHE. Read More

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http://dx.doi.org/10.1186/s12891-019-2912-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878674PMC
November 2019

Nora's Lesion: Bizarre Parosteal Osteochondromatous Proliferation Causing Splay Foot Deformity: A Case Report.

J Am Podiatr Med Assoc 2019 Nov;109(6):463-466

Nora's lesion, or bizarre parosteal osteochondromatous proliferation (BPOP), is a rare benign lesion that is made up of varying degrees of cartilage, bone, and spindle cells. Most notably, calcification of the cartilage or "blue bone," is a feature of the disorder. The condition principally affects long tubular bones of the hands and feet, and is generally seen in patients in their second and third decades of life. Read More

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http://dx.doi.org/10.7547/17-009DOI Listing
November 2019

Malignant Transformation of Recurrent Synovial Chondromatosis: A Case Report and Review.

Cureus 2019 Oct 4;11(10):e5839. Epub 2019 Oct 4.

Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.

Chondrosarcoma is the second most common primary malignant bone tumor. While the majority arrive de novo, a minority arise from malignant transformation of benign neoplasms, such as osteochondromas. Rarely, chondrosarcomas have been found to originate from other preexisting lesions, such as synovial chondromatosis. Read More

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http://dx.doi.org/10.7759/cureus.5839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6827705PMC
October 2019

Late presentation of spinal cord compression in hereditary multiple exostosis: case reports and review of the literature.

J Child Orthop 2019 Oct;13(5):463-470

Paediatric Limb Reconstruction Service, Department of Pediatric Orthopedic Surgery, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

Introduction: Osteochondromas are usually found in the long bones of patients with hereditary multiple exostoses (HME). The spine is reported to be involved in over 50% of cases, but few of these patients are symptomatic as the result of an existing spinal exostosis.

Methods: We reviewed the current literature in order to find the right approach to patients with HME-complicated spinal exostosis and describe three paediatric patients that were diagnosed late with spinal cord compression due to cervical exostosis. Read More

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http://dx.doi.org/10.1302/1863-2548.13.180130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6808079PMC
October 2019

Surgical Management of Thoracic Multiple Exostoses.

Ann Thorac Surg 2020 05 4;109(5):e361-e362. Epub 2019 Oct 4.

Department of Thoracic Surgery, Royal Papworth Hospital, Papworth Everard, Cambridge, United Kingdom.

Hereditary multiple exostoses is a rare autosomal dominant condition resulting in the development of multiple osteochondromas. We present the case of a 25-year-old woman with hereditary multiple exostoses who was referred for thoracic surgery assessment due to severe right-sided chest pain. Computed tomographic scan allowed preoperative planning for resection of the lesion. Read More

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http://dx.doi.org/10.1016/j.athoracsur.2019.08.088DOI Listing
May 2020
1 Read

A rare association of pathological variant of Alport's syndrome caused by hemizygous 5' splice mutation in intron 10 of COL4A5 gene with metachondromatosis due to heterozygous missense variation in protein tyrosine phosphatase nonreceptor type 11 gene.

Saudi J Kidney Dis Transpl 2019 Jul-Aug;30(4):969-973

Department of Nephrology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.

Metachondromatosis is a rare disorder of autosomal inheritance with incomplete penetrance, which is characterized by formation of osteochondroma and enchondroma, caused by loss of function of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene. Diagnosis is made based on the distribution and orientation of lesions with history of regression of lesions with time and confirmed by genetic mutation of PTPN11 gene. We report a rare case of a 24-year-old male with Alport's syndrome with metachondromatosis due to missense variation in PTPN11 gene. Read More

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http://dx.doi.org/10.4103/1319-2442.265476DOI Listing
February 2020
1 Read

Osteochondroma of acromioclavicular joint.

BMJ Case Rep 2019 Aug 22;12(8). Epub 2019 Aug 22.

Trauma & Orthopaedics, Galway University Hospitals, Galway, Ireland.

Osteochondroma is the most common type of benign bone tumour. It is a benign chondrogenic lesion derived from aberrant cartilage from the perichondral ring, and it commonly presents in the proximal humerus, proximal femur and knee. Osteochondroma is usually solitary but can be multiple with patients with hereditary multiple exostoses. Read More

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http://dx.doi.org/10.1136/bcr-2019-230246DOI Listing
August 2019
9 Reads

[Identification of pathogenic variations in two Chinese pedigrees affected with hereditary multiple exostosis].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Aug;36(8):757-760

Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences - School of Basic Medicine, Peking Union Medical College, Beijing 100005, China. ybsurg

Objective: To identify pathogenic variations of EXT1 and EXT2 genes in two Chinese pedigrees affected with hereditary multiple exostosis (HME).

Methods: Genomic DNA was extracted from peripheral blood samples using a phenol-chloroform method. PCR and Sanger sequencing was conducted to amplify the exons and the flanking intronic regions of the EXT1 and EXT2 genes. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.08.001DOI Listing
August 2019
6 Reads

Whole-body MRI in assessing malignant transformation in multiple hereditary exostoses and enchondromatosis: audit results and literature review.

Skeletal Radiol 2020 Jan 5;49(1):115-124. Epub 2019 Jul 5.

Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Blvd 99, 8200, Aarhus N, Denmark.

Objective: To analyze the results of annual screening using whole-body magnetic resonance imaging (WBMRI) in patients with multiple hereditary exostoses (MHE) and enchondromatosis (EC), and estimate the risk for transformation to chondrosarcoma (CS) in these disorders.

Materials And Methods: A total of 62 patients (57 with MHE and five with EC) screened during a mean follow-up period of 4.6 years (range, 1-10 years) using 253 WBMRIs (median four WBMRIs per patient, range, 1-10) were analyzed retrospectively. Read More

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http://dx.doi.org/10.1007/s00256-019-03268-zDOI Listing
January 2020

Multiple Hereditary Osteochondromas.

Mayo Clin Proc 2019 07;94(7):1388-1389

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1016/j.mayocp.2019.05.005DOI Listing

[A case report of hereditary multiple exostosis with cervical spinal cord compression].

Zhongguo Gu Shang 2019 May;32(5):459-461

Department of Orthopaedics, the 2nd Affiliated Hospital of Medical College, Xi'an Jiaotong University, Xi'an 710004, Shaanxi, China.

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http://dx.doi.org/10.3969/j.issn.1003-0034.2019.05.014DOI Listing
May 2019
9 Reads

Multiple cartilaginous exostoses in a Swiss Mountain dog causing thoracolumbar compressive myelopathy.

Acta Vet Scand 2019 Jun 25;61(1):32. Epub 2019 Jun 25.

Department of Veterinary Clinical Sciences, Small Animal Clinic, Justus-Liebig-University, Frankfurter Str. 108, 35392, Giessen, Germany.

Background: Multiple cartilaginous exostoses are a rare, benign, proliferative condition of cartilage and bone. They can be asymptomatic, or they may cause pain, lameness, paresis and even paralysis, depending on their location and size. In cases of spinal cord or nerve root compression, surgery is the treatment of choice. Read More

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http://dx.doi.org/10.1186/s13028-019-0467-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593590PMC
June 2019
14 Reads

Insights into the molecular regulatory network of pathomechanisms in osteochondroma.

J Cell Biochem 2019 10 18;120(10):16362-16369. Epub 2019 Jun 18.

School of Basic Medical Sciences, Nanchang University, Nanchang, Jiangxi, China.

Osteochondroma is a benign autosomal dominant hereditary disease characterized by abnormal proliferation of cartilage in the long bone. It is divided into solitary osteochondroma and hereditary multiple exostoses (HMEs). The exostosin-1 (EXT-1) and exostosin-2 (EXT-2) gene mutations are well-defined molecular mechanisms in the pathogenesis of HME. Read More

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http://dx.doi.org/10.1002/jcb.29155DOI Listing
October 2019
37 Reads

Osteochondromatosis (multiple cartilaginous exostoses) in an immature killer whale Orcinus orca.

Dis Aquat Organ 2019 May;134(3):209-213

Programa de Pós-graduação em Biodiversidade e Biologia Evolutiva, Universidade Federal do Rio de Janeiro (UFRJ), Cidade Universitária, Rio de Janeiro, RJ 21941-902, Brazil.

An immature killer whale Orcinus orca found dead on the southeastern Brazilian coast had multiple bone proliferations: on the skull, vertebrae, hemal arches, and ribs. The bony formations were characterized as multiple osteochondromas, as defined by osteochondromatosis. The diagnosis was based on macroscopic and radiographic observations. Read More

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http://dx.doi.org/10.3354/dao03372DOI Listing
May 2019
26 Reads

Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series.

Medicine (Baltimore) 2019 May;98(20):e15692

Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University.

Rationale: Hereditary multiple exostoses (HMEs) is an autosomal dominant skeletal disorder.

Patient Concerns: Six probands of the 6 unrelated Han Chinese families were identified as having HME. These patients had exostoses at multiple sites and significantly affected joints malformation and movement. Read More

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http://dx.doi.org/10.1097/MD.0000000000015692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531242PMC
May 2019
10 Reads

[Analysis of EXT1 and EXT2 gene mutations in two Chinese pedigrees affected with hereditary multiple exostosis].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 May;36(5):451-455

Center of Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. Email:

Objective: To detect EXT1 and EXT2 gene mutations in two pedigrees affected with hereditary multiple exostosis (HME).

Methods: The coding regions and exon/intron boundaries of the EXT1 and EXT2 genes were analyzed by targeted next-generation sequencing (NGS). Suspected mutations were confirmed by Sanger sequencing of the probands, their family members and 200 unrelated healthy controls. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.05.009DOI Listing
May 2019
4 Reads

Hereditary Multiple Exostoses-A Comprehensive Examination of a 4-Year-Old Dutch Warmblood Male With Maternal Links to HME in First and Second Generations.

J Equine Vet Sci 2018 May 21;64:55-58. Epub 2018 Feb 21.

The University of New England, Canine and Equine Research Group, Armidale, New South Wales, Australia.

Hereditary multiple exostoses (HME) is a condition rarely diagnosed in horses, which has not been previously reported in Dutch Warmblood horses. Its presentation resembles that diagnosed in humans, and it is predominantly active during periods of skeletal maturation. This case study reports a link between a granddam with no obvious HME lesions and its first and second generations presenting with HME, albeit with different sires. Read More

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http://dx.doi.org/10.1016/j.jevs.2018.02.009DOI Listing
May 2018
3 Reads

Fatigue and pain in children and adults with multiple osteochondromas in Norway, a cross-sectional study.

Int J Orthop Trauma Nurs 2019 Aug 10;34:28-35. Epub 2019 Feb 10.

TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway; Oslo Metropolitan University, Postboks 4, St. Olavs plass, 0130, Oslo, Norway.

Background: Multiple Osteochondromas (MO) is a rare skeletal disorder frequently needing orthopaedic surgery. High prevalence of pain has been reported, however fatigue has not previously been investigated.

Purpose: Our aims were to investigate prevalence of fatigue and pain in Norwegian children and adults with MO. Read More

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http://dx.doi.org/10.1016/j.ijotn.2019.02.001DOI Listing
August 2019
2 Reads

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

Hum Mol Genet 2019 07;28(13):2133-2142

Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

Hereditary multiple osteochondromas (HMO) is a rare autosomal dominant skeletal disorder, caused by heterozygous variants in either EXT1 or EXT2, which encode proteins involved in the biogenesis of heparan sulphate. Pathogenesis and genotype-phenotype correlations remain poorly understood. We studied 114 HMO families (158 affected individuals) with causative EXT1 or EXT2 variants identified by Sanger sequencing, or multiplex ligation-dependent probe amplification and qPCR. Read More

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http://dx.doi.org/10.1093/hmg/ddz046DOI Listing
July 2019
30 Reads

Knee locked in flexion: incarcerated semitendinosus tendon around a proximal tibial osteochondroma.

J Surg Case Rep 2019 Feb 8;2019(2):rjy346. Epub 2019 Feb 8.

Department of Orthopaedic Surgery, University of Toledo Medical Center, Toledo, OH 43614, USA.

This case reports on a knee locked in flexion due to incarceration of the semitendinosus tendon around an osteochondroma in a patient with a history of multiple hereditary exostoses (MHE). An 18-year-old female with history of MHE presented with acute right medial knee pain and inability to extend her knee. Radiographs confirmed multiple lower extremity osteochondromas, notably a large, 3-cm pedunculated osteochondroma about her right medial proximal tibia. Read More

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https://academic.oup.com/jscr/article/doi/10.1093/jscr/rjy34
Publisher Site
http://dx.doi.org/10.1093/jscr/rjy346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368137PMC
February 2019
3 Reads

Multiple Exostoses Syndrome and Basilar Artery Aneurysm: A Case Report.

J Vasc Interv Neurol 2018 Nov;10(2):28-32

Department of Neurosurgery, University of Patras, Patras, Greece.

Background: Hereditary multiple exostoses (HME) is an inherited genetic condition, characterized by the formation of multiple osteochondromas, developing throughout childhood and into puberty. Vascular complications associated with HME are uncommon.

Methods: A case of a patient with HME who was admitted to hospital with subarachnoid hemorrhage (SAH), as a result of acute rupture of a basilar tip aneurysm (BTA), will be presented. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350870PMC
November 2018
40 Reads

Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.

Ann Hum Genet 2019 05 7;83(3):160-170. Epub 2019 Feb 7.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Multiple osteochondromas (MOs) or hereditary multiple exostoses is a rare autosomal-dominant disease characterized by growths of MOs, which are benign cartilage-capped bone tumors that grow away from the growth plates. Almost 90% of MOs have a molecular explanation and 10% are unexplained. MOs are genetically heterogeneous with two causal genes on 8q24. Read More

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http://dx.doi.org/10.1111/ahg.12298DOI Listing
May 2019
15 Reads

Identification of risk factors affecting bone formation in gradual ulnar lengthening in children with hereditary multiple exostoses: A retrospective study.

Medicine (Baltimore) 2019 Feb;98(5):e14280

Department of Pediatric Orthopedics.

The forearm deformity classified by Masada is a characteristic trait of patients with hereditary multiple exostoses (HME). Ulnar gradual lengthening, which was considered to be a safe and reliable procedure, was popular in treating these difficult deformities, however, delayed consolidation of the callus is uncommon but not rare in literature review. The purpose of this study was to try to identify the risk factors influencing bone healing in gradual ulnar lengthening in HME. Read More

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http://dx.doi.org/10.1097/MD.0000000000014280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380801PMC
February 2019
15 Reads

Osteochondroma of the scapula associated with a subclavian artery pseudoaneurysm: Case report.

SAGE Open Med Case Rep 2019 10;7:2050313X18823089. Epub 2019 Jan 10.

Department of Orthopaedics and Trauma, Medical University of Graz, Graz, Austria.

Osteochondromas rarely induce vascular complications by mechanical compression. We present the case of a subclavian artery pseudoaneursym caused by an osteochondroma of the scapula in a 67-year-old male. The diagnosis was based on a previous history of multiple exostoses, computed tomography and magnetic resonance imaging, as well as the local vascular clinical status of the lesion. Read More

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http://dx.doi.org/10.1177/2050313X18823089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330723PMC
January 2019
5 Reads

A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses.

Int J Oncol 2019 Mar 16;54(3):859-868. Epub 2019 Jan 16.

Department of Laboratory Medicine, The First Affiliated Hospital of Xiamen University, Xiamen, Fujian 361003, P.R. China.

The molecular mechanism of hereditary multiple exostoses (HME) remains ambiguous and a limited number of studies have investigated the pathogenic mechanism of mutations in patients with HME. In the present study, a novel heterozygous splice mutation (c.1284+2del) in exostosin glycosyltransferase 1 (EXT1) gene was identified in a three‑generation family with HME. Read More

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http://dx.doi.org/10.3892/ijo.2019.4688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365038PMC
March 2019
10 Reads
3.025 Impact Factor

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.

Mol Genet Genomic Med 2019 03 10;7(3):e00560. Epub 2019 Jan 10.

Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.

Background: We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas.

Methods: The patient underwent extensive genetic testing and analysis in an attempt to diagnose the cause of his condition. Clinical testing included metaphase karyotyping, array comparative genomic hybridization, direct sequencing and multiplex ligation-dependent probe amplification and trio-based exome sequencing. Read More

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http://dx.doi.org/10.1002/mgg3.560DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418362PMC
March 2019
19 Reads

Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.

Clin Dysmorphol 2019 Apr;28(2):57-62

Department of Clinical Genetics, Academic Medical Center Amsterdam.

Stüve-Wiedemann syndrome (OMIM #601559) is a rare, autosomal recessive disorder characterized by skeletal dysplasia, consecutive infections, feeding difficulties and autonomic dysregulation. We present an Afro-Caribbean family with two siblings diagnosed with Stüve-Wiedemann syndrome. The underlying loss-of-function mutation in the leukemia inhibitory factor receptor gene is thought to impair proper functioning of the JAK/STAT 3 pathway. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000255DOI Listing
April 2019
5 Reads

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.

Eur J Hum Genet 2019 03 28;27(3):378-383. Epub 2018 Nov 28.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.

Potocki-Shaffer syndrome (PSS) is a contiguous gene syndrome caused by 11p11.2 deletions. PSS is clinically characterized by intellectual disability, craniofacial anomalies, enlarged parietal foramina, and multiple exostoses. Read More

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http://dx.doi.org/10.1038/s41431-018-0289-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460561PMC
March 2019
37 Reads

A patient with dermo-chondro-corneal dystrophy (François syndrome) and acute dyspnea.

Intensive Care Med 2019 08 23;45(8):1145-1146. Epub 2018 Oct 23.

Department of Anaesthesiology, Intensive Care, Emergency Medicine, Transfusion Medicine and Pain, Therapy, Protestant Hospital of the Bethel Foundation, Bielefeld, Germany.

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http://link.springer.com/10.1007/s00134-018-5428-x
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http://dx.doi.org/10.1007/s00134-018-5428-xDOI Listing
August 2019
13 Reads

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.

Medicine (Baltimore) 2018 Oct;97(42):e12855

Department of Medical Genetics.

Hereditary multiple osteochondroma (HMO) is one of the most common genetic skeletal disorders. It is caused by mutations in either EXT1 or EXT2 resulting in abnormal skeletal growth and morphogenesis. However, the spectrum and frequency of EXT1 and EXT2 mutations in Chinese patients with HMO was not previously investigated. Read More

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http://Insights.ovid.com/crossref?an=00005792-201810190-0005
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http://dx.doi.org/10.1097/MD.0000000000012855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211902PMC
October 2018
31 Reads

Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.

Clin Genet 2019 01 24;95(1):165-171. Epub 2018 Oct 24.

Laboratory of Medical Genetics, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

Biallelic exostosin-2 (EXT2) pathogenic variants have been described as the cause of the Seizures-Scoliosis-Macrocephaly syndrome (OMIM 616682) characterized by intellectual disability, facial dysmorphisms and seizures. More recently, it has been proposed to rename this disorder with the acronym AREXT2 (autosomal recessive EXT2-related syndrome). Here, we report the third family affected by AREXT2 syndrome, harboring compound missense variants in EXT2, p. Read More

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http://dx.doi.org/10.1111/cge.13458DOI Listing
January 2019
17 Reads

The role of EXT1 gene mutation and its high expression of calcitonin gene-related peptide in the development of multiple exostosis.

Biochem Biophys Res Commun 2018 11 24;505(4):959-965. Epub 2018 Sep 24.

Department of Reproductive Medicine Centre, 1st Affiliated Hospital, Fujian Medical University, Fujian, China. Electronic address:

Objective: Screening and identifying the gene mutation of EXT1, EXT2 and EXT3 associated with multiple exostosis (ME) and the expression in tumor tissues.

Methods: Nine patients with multiple exostosis were collected and genomic DNA was extracted. Polymerase chain reaction (PCR) amplification and direct sequencing techniques were used to screen all exons, 5' and 3' ends of the EXT1, EXT2 and EXT3 related causative genes. Read More

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http://dx.doi.org/10.1016/j.bbrc.2018.09.115DOI Listing
November 2018
11 Reads

Large rib osteochondroma in a child in Aleppo, Syria.

J Surg Case Rep 2018 Sep 21;2018(9):rjy247. Epub 2018 Sep 21.

Department of Hematology and Oncology, Lifespan Cancer Institute Providence, Rhode Island 02903, USA.

Background: Osteochondromas are the most common tumors of the long bones in children. Osteochondromas can rarely be seen in the chest wall and they are usually diagnosed at a young age. They can be sporadic or part of the hereditary multiple exostoses. Read More

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/jscr/rjy247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6149231PMC
September 2018
5 Reads

An extremely rare association of multiple familial trichoepitheliomas and hereditary multiple osteochondromas.

Int J Dermatol 2018 Dec 23;57(12):e157-e159. Epub 2018 Sep 23.

Dermatovenereology Department, Hospital de Vila Franca de Xira, Vila Franca de Xira, Portugal.

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http://dx.doi.org/10.1111/ijd.14251DOI Listing
December 2018
5 Reads

[Clinical and molecular study in a family with multiple osteochondromatosis].

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

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May 2019
25 Reads

Hereditary multiple exostoses of the ribs as an uncommon cause of pneumothorax: A case report.

Medicine (Baltimore) 2018 Aug;97(35):e11894

Department of Respiratory Diseases, University Hospital, Reims, France.

Rationale: Hereditary multiple exostoses (HME) is a genetic musculoskeletal condition causing multiple exostoses. Rib location of exostosis can be complicated by thoracic injuries.

Patient Concerns And Diagnoses: We report a case of pneumothorax in a 32-year-old man with a partial left-sided pneumothorax caused by an exostosis of the fourth and fifth ribs. Read More

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http://dx.doi.org/10.1097/MD.0000000000011894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393102PMC
August 2018
14 Reads

More Than Epiphyseal Osteochondromas: Updated Understanding of Imaging Findings in Dysplasia Epiphysealis Hemimelica (Trevor Disease).

AJR Am J Roentgenol 2018 10 30;211(4):910-919. Epub 2018 Aug 30.

1 Department of Radiology, The Children's Hospital of Philadelphia, 3NW39, 3401 Civic Center Blvd, Philadelphia, PA 19104.

Objective: The purpose of this article is to discuss approaches to imaging dysplasia epiphysealis hemimelica in the context of recent advances in the understanding of the underlying pathophysiologic profile of this entity, which may result in pain, growth disturbance, and early development of osteoarthritis.

Conclusion: Dysplasia epiphysealis hemimelica was first characterized as a skeletal disorder with osteochondromas characteristically involving epiphyses on one side of the same lower extremity. Upper extremity involvement was subsequently recognized. Read More

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http://dx.doi.org/10.2214/AJR.18.19712DOI Listing
October 2018
9 Reads

Osteoblastic Osteosarcoma Arising beneath an Osteochondroma in an 11-Year-Old Male with Multiple Hereditary Exostoses.

Case Rep Orthop 2018 12;2018:8280415. Epub 2018 Jul 12.

Department of Pathology & Laboratory Medicine, King Faisal Hospital, OSHEN, Kigali, Rwanda.

Introduction: Multiple hereditary exostoses (MHE) is a rare autosomal dominant disorder characterized by the presence of multiple skeletal deformities. They are painless slow-growing lesions. Malignant transformation tends to occur later in adulthood and has only been seen in 1-5% of patients. Read More

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https://www.hindawi.com/journals/crior/2018/8280415/
Publisher Site
http://dx.doi.org/10.1155/2018/8280415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079448PMC
July 2018
6 Reads

Multiple Hereditary Exostoses: Report of an Gene Mutation in a Colombian Family.

J Pediatr Genet 2018 Sep 7;7(3):122-124. Epub 2018 Mar 7.

Department of Pediatrics, Hospital de San José, Bogotá D.C., Colombia.

Multiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the or genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report a family affected by MHE. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1636998
Publisher Site
http://dx.doi.org/10.1055/s-0038-1636998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087478PMC
September 2018
9 Reads