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Hereditary Multiple Osteochondromas
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Hereditary multiple osteochondromas (HMO, also referred to as hereditary multiple exostoses [HME]) represent a rare autosomal dominant disorder characterized by the growth of benign cartilage-capped bone tumors (osteochondromas or exostoses) within the perichondrium flanking the growth plates of long bones, ribs, hip, and vertebrae in very young and adolescent patients, leading to pain, functional problems, and deformities, especially of the forearm.
The locomotor system
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
Exostoses are usually single. Hereditary multiple exostoses (diaphyseal aclasis) is inherited as an autosomal dominant trait and is usually due to mutation of one of two genes, EXT1 and EXT2, which encode enzymes involved in the synthesis of the cartilaginous extracellular matrix. Malignant change is rare in solitary exostoses and <2% of those patients with multiple lesions develop chondrosarcoma. Onset of pain or recommencement of growth, raises a suspicion of malignancy.
Microdeletion Syndromes
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Gopalrao V. N. Velagaleti, Nancy J. Carpenter
Langer–Giedion syndrome can be distinguished from two other disorders with similar features. Trichorhinophalangeal syndrome, type 1 (TRPS1) is associated with similar facial features and cone-shaped epiphyses but with no cartilaginous exostoses. These patients are usually not mentally retarded. On the other hand, patients with the hereditary multiple exostoses (HME) syndrome have exostoses but not the other features seen in TRPS1 and LGS.
Treatment of spinal cord compression caused by C2 osteochondroma with reconstruction and fusion after total resection: Case report and literature review
Published in The Journal of Spinal Cord Medicine, 2021
Qian Guo, Zhong Fang, Yong Li, Yong Xu, Hanfeng Guan, Feng Li
Pictures of the pre-operative imaging examinations are presented in Fig. 1(A)–(I). Plain radiographs of the knee joint showed osteochondromas located in the metaphysis of the right tibia and femur around the knee joint, which is the most typical location of osteochondroma. Conventional anterior–posterior and lateral roentgenograms of the cervical spine provided limited information. Computed tomography scans showed a 2.1 cm*1.8 cm*1.7 cm extradural osseous protrusion projecting into the spinal canal in continuity with the posterior arch of C2. Magnetic resonance imaging revealed a large extradural mass lesion arising from the C2 lamina leading to spinal cord compression. The lesion showed signal hyperintensity on both T1-weighted and T2-weighted images. 3D-reconstruction of the CT scan of the cervical spine showed that the lesion was from the right lamina of C2 and was located on the ventral side of C1. The patient was given a clinical diagnosis as having “multiple exostoses” because osteochondromas were found both in the knee joint and cervical spine; however, we could not diagnose him as having “hereditary multiple exostoses” because there was no evidence of a positive family history.