Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas [PDF]
Human Mutation, 2015 The additional mutational complexity associated with copy number variation (CNV) can provide important clues as to the underlying mechanisms of CNV formation.
Peiqiang Su +2 more
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Osteochondroma and Hereditary Multiple Osteochondromas
2021Osteochondroma is the most common bone tumor, mainly affecting patients under 20 years of age. It presents in 90% of the cases as a solitary lesion. The remaining cases are part of the multiple hereditary osteochondromas syndrome. The pathogenesis is not entirely clear. Osteochondromas usually develop at the metaphysis of long bones.
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Incidental finding of hereditary multiple osteochondroma causing ischiofemoral impingement
BMJ Case Reports, 2021Ischiofemoral 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.
Ahmed Elnaggar +3 more
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Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants [PDF]
Human Molecular Genetics, 2019 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.
Carmela Fusco +2 more
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Intra-articular acetabular osteochondroma in patients with multiple hereditary exostoses
Journal of Pediatric Orthopaedics B, 2021We 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.
Ashima, Choudhry +6 more
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Hereditary Multiple Osteochondromatosis (HMO) is characterised by the presence of multiple osteochondromas, mainly affecting the long bones. Osteochondromas are bony projections that are either sessile or pendulated in form. Isolated osteochondromas in the form of spurs have been described as occurring in the knee and the foot.
Nikolaos Laliotis +2 more
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Syringomyelia and vertebral osteochondromas in patients with multiple hereditary exostosis
Journal of Pediatric Orthopaedics B, 2014Involvement of osteochondromas in the spinal canal occurs in patients with multiple hereditary exostosis, but the exact prevalence is unknown. A recent study found an incidence of 68%, with 27% of these lesions encroaching into the spinal canal.
Robert L, Thompson +6 more
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Management of deformities of the forearm in multiple hereditary osteochondromas.
The Journal of Bone & Joint Surgery, 1984A patient with multiple hereditary osteochondromas may have any of several severe deformities of the forearm, the most common of which are ulnar deviation of the wrist associated with relative shortening of the ulna, bowing of either or both of the bones of the forearm, shortening of the forearm, and late dislocation of the radial head.
G R, Fogel +3 more
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Radial osteotomy for the correction of forearm deformities in hereditary multiple osteochondroma
Hand Surgery and Rehabilitation, 2020Forearm deformities are often observed in patients with hereditary multiple osteochondroma, resulting in functional disability and cosmetic impairment. The aim of this study was to assess clinical and radiological outcomes after corrective osteotomy of the radius (COR). We performed a retrospective analysis of clinical and radiologic data from patients
C, Klein +5 more
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