Results 71 to 80 of about 1,261 (184)

A Case of Hereditary Multiple Exostoses: Role of FNAC in diagnosis [PDF]

Perspectives In Medical Research
Hereditary Multiple Exostoses (HME) is a rare autosomal dominant bone disease. It is characterized with numerous benign osteochondromas, which grow outward from the metaphyses of long bones.
Annu Nanda, Qury Sabita Mahapatra, Shalini Trivedi   +2 more
doaj   +1 more source

Clinical And Genetic Diagnosis Of Multiple Osteochondromas In Rwandan Patients [PDF]

, 2013
Multiple Osteochondromas (MO) or hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder mainly characterized by multiple osteochondromas predominantly located at the growth plates of long bones.
Nyundo, M., Uwineza, A., Byiringiro, J.C., Mutesa, L., Gashegu, J., Wuyts, W.   +5 more
core   +2 more sources

Haplotype Construction Using Embryos as Probands of the Pathogenic Variations in EXT1, CUL3, and HBA

Human Mutation, Volume 2026, Issue 1, 2026.
Preimplantation genetic testing (PGT) represents a crucial strategy in the prevention of monogenic disorders, ensuring that only embryos free from these genetic conditions are implanted during assisted reproductive technologies. By analyzing the type of haplotypes of the variation of the probands or the carriers, we can significantly enhance the ...
Defeng Shu, Yi Liu, Xiaoli Wang, Tao Liang, Zubo Wu, Priya Gusain   +5 more
wiley   +1 more source

Palovarotene Inhibits Osteochondroma Formation in a Mouse Model of Multiple Hereditary Exostoses [PDF]

Journal of Bone and Mineral Research, 2017
ABSTRACT   Multiple hereditary exostoses (MHE), also known as multiple osteochondromas (MO), is an autosomal dominant disorder characterized by the development of multiple cartilage-capped bone tumors (osteochondromas).
Toshihiro, Inubushi, Isabelle, Lemire, Fumitoshi, Irie, Yu, Yamaguchi   +3 more
openaire   +2 more sources

Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines

eJHaem, Volume 6, Issue 6, December 2025.
ABSTRACT Introduction Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early‐onset life‐threatening infections. SGD2 is caused by autosomal recessive mutations in the SMARCD2 gene. Methods Prenatal screening in our patient revealed a novel homozygous nonsense mutation in SMARCD2 (c.208C>T, p.Gln70*).
Michelle A. E. Brouwer, Arie Arensman, H. Rob Taal, Emilie P. Buddingh, Su Ming Sun, Anthon Hulsmann, Lenneke Waals‐Prinzen   +6 more
wiley   +1 more source

Spine Osteochondromas: are they always rare and harmless? A case series of six symptomatic cases

Coluna/Columna
Osteochondroma is the most common benign bone tumor, though spinal involvement is rare. This study presents a case series of six symptomatic spinal osteochondromas, including both solitary forms and cases associated with multiple hereditary exostoses ...
GABRIEL FARIAS ALVES, ALDERICO GIRãO CAMPOS DE BARROS, LUíS E. CARELLI   +2 more
doaj   +1 more source

Musculoskeletal Diseases: Mechanisms and Therapeutic Advances

MedComm, Volume 6, Issue 12, December 2025.
Musculoskeletal diseases comprise a broad spectrum of inflammatory, degenerative, and neoplastic disorders. Increasing evidence highlights the central role of immune regulation in their pathogenesis, with complex interactions among immune, bone, muscle, and stromal cells.
Xiao Ma, Eloy Yinwang, Xupeng Chai, Fangqian Wang, Zehao Chen, Shengdong Wang, Hao Zhou, Yucheng Xue, Jiangchu Lei, Fanglu Chen, Hengyuan Li, Shixin Chen, Shenzhi Zhao, Kelei Wang, Liang Chen, Junjie Gao, Zhaoming Ye, Nong Lin   +17 more
wiley   +1 more source

Costal exostosis with fungation: A rare presentation

Journal of Orthopedics, Traumatology and Rehabilitation, 2014
Costal exostosis occurs either sporadically or as a manifestation of hereditary multiple osteochondromas (HMOs), a disorder that is inherited in an autosomal dominant manner.
Hashmukh Shantilal Varma, Sachin Upadhyay   +1 more
doaj   +1 more source

An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis‐Associated Pathway in the POIKTMP Syndrome

Journal of Cellular and Molecular Medicine, Volume 29, Issue 19, October 2025.
ABSTRACT Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis (POIKTMP) is a rare hereditary disorder caused by mutations in the FAM111B gene, characterised by multi‐organ fibrosis, particularly affecting the lungs. This study investigates the molecular mechanisms of fibrosis in POIKTMP through genotyping and gene expression profiling ...
Nadine Tambwe, Musalula Sinkala, Oluwafemi G. Oluwole, Nonhlanhla P. Khumalo, Afolake Arowolo   +4 more
wiley   +1 more source

Gradual Lengthening of the Ulna in Patients with Multiple Hereditary Exostoses with a Dislocated Radial Head [PDF]

, 2014
PURPOSE: Multiple hereditary exostoses of the forearm typically form in the distal ulna, causing disturbances in the growth of the ulna and functional disability.
조영진
core   +1 more source