Results 91 to 100 of about 1,873 (147)

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients. [PDF]

Genes (Basel), 2022
Caino S, Cubilla MA, Alba R, Obregón MG, Fano V, Gómez A, Zecchini L, Lapunzina P, Aza-Carmona M, Heath KE, Asteggiano CG.   +10 more
europepmc   +1 more source

Hereditary multiple exostoses with a giant osteochondroma degenerated into chondrosarcoma

Radiology Case Reports
We present a case of hereditary multiple exostoses with malignant transformation to chondrosarcoma in a woman complaining of enlargement and pain in the right thigh.
Federica Masino, MD, Manuela Montatore, MD, Rossella Carpentiere, MD, Marina Balbino, MD, Rossella Gifuni, MD, Giacomo Fascia, MD, Giuseppe Guglielmi, MD   +6 more
doaj   +1 more source

Osteochondroma of the Tentorium Cerebelli: Report of the First Case and Review of Literature

Indian Journal of Neurosurgery
Osteochondromas are tumors composed of both bony and cartilaginous elements. These slow-growing lesions commonly occur in the appendicular skeleton. Intracranial presentation is extremely rare with very isolated case reports in the literature. We present
Sundarakrishnan Dharanipathy, Rajeev Sharma, Mehar Chand Sharma   +2 more
doaj   +1 more source

Modified gradual ulnar lengthening for treatment of Masada type IIb forearm deformity in children with hereditary multiple osteochondromas. [PDF]

Front Pediatr, 2023
Fan J, Zhang X, Sun L, Li C, Qi X, Sun B.   +5 more
europepmc   +1 more source

Time-lapse technic used to uncover the naturel growth of osteochondromas of the wrist in patients with Hereditary Multiple Osteochondromas

, 2017
Background: In patients with Hereditary Multiple Osteochondromas (HMO) shortening and deformity of the long bones is a well-known sequel. Several theories could clarify the cause of shortening or deformity.
Derwall, John, John Derwall, Lodewijk W. van Rhijn, Staal, Heleen M., Rhijn, Lodewijk W. Van, Adhiambo M. Witlox, Heleen M. Staal, Witlox, Adhiambo M.   +7 more
core   +2 more sources

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

, 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.
Rella, Annalisa, Bengala, Mario, D'Asdia, Maria Cecilia, Cassina, Matteo, Mattina, Teresa, Nardella, Grazia, Castori, Marco, D'Agruma, Leonardo, De Luca, Alessandro, Copetti, Massimiliano, Fischetto, Rita, Causio, Francesco Andrea, Guarnieri, Vito, Petrucci, Simona, Micale, Lucia, Caldarini, Camilla, Fusco, Carmela, Annunziata, Francesca, Biagini, Tommaso, Brancati, Francesco, Petracca, Antonio, Augello, Bartolomeo   +21 more
core   +1 more source

Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva

Orthopaedic Surgery
Background Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disease characterized by malformation of the bilateral great toes and progressive heterotopic ossification.
Longqing Li, Minxun Lu, Xuanhong He, Chang Zou, Chuanxi Zheng, Yitian Wang, Fan Tang, Yi Luo, Yong Zhou, Li Min, Chongqi Tu   +10 more
doaj   +1 more source

Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas. [PDF]

Mol Syndromol, 2021
Wang CY, Yu F, Jin JY, He JQ, Fan LL, Tang JY, Xiang R.   +6 more
europepmc   +1 more source

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas

, 2016
Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center ...
Balali M, Houshmand M, Akbaroghli S, Yong Meng G, Aryani O, Kamalidehghan B, Saber S   +6 more
core  

Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes. [PDF]

Oncol Lett, 2021
Mohaidat Z, Bodoor K, Almomani R, Alorjani M, Awwad MA, Bany-Khalaf A, Al-Batayneh K.   +6 more
europepmc   +1 more source