Results 61 to 70 of about 1,132 (155)

Surgical Approach and Considerations for Compressive Thoracic Intraspinal Osteochondroma in Familial Hereditary Multiple Exostosis

Diseases
Introduction: Hereditary multiple exostosis or hereditary multiple osteochondromas is a very rare clinical condition. Usually, these lesions tend to occur in the pediatric population, remaining silent until adulthood.
Corneliu Toader, Antonio-Daniel Corlatescu, Nicolaie Dobrin, Razvan-Adrian Covache-Busuioc, Horia Petre Costin, Alexandru Vlad Ciurea   +5 more
doaj   +1 more source

Dysplasia epiphysealis hemimelica: A histological comparative study with osteochondromas

Journal of Children's Orthopaedics, 2017
Purpose Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder resulting in epiphyseal overgrowth. Based on histological appearance, it is often described as an osteochondroma or osteochondroma-like lesion, although clinical differences
J. Stevens, T. J. M. Welting, A. M. Witlox, L. W. van Rhijn, H. M. Staal   +4 more
doaj   +1 more source

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

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

Multilobed Osteochondroma of the Posterior Humeral Midshaft: A Rare Morphological Variant

Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.
Osteochondroma, or osseocartilaginous exostosis, is the most common benign bone tumor, accounting for approximately 30%–35% of benign bone lesions and predominantly arising from the metaphyseal regions of long bones in young males. Mid‐diaphyseal origin and multilobed morphology are exceptionally uncommon and may present diagnostic and surgical ...
Feras Abuqweider, Abdul Haq Mahmoud Shahin, Anas R. A. Bayyoud qasrawi, Ranya Abu Khalaf, Abdallah Badarna, Hanin Shatrit, Momen Sulyman, Mostafa Ibraheem, Qais Alnjoom, Shashank Kaushik   +9 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

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

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

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

Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report

Journal of Current Ophthalmology
Purpose: To study rare ocular findings in a rare case of hereditary multiple exostoses (HME) and to study HME in one family. Methods: HME is an autosomal dominant genetic disease characterized by the presence of multiple exostoses (osteochondromas).
Shashi Tanwar, Nishtha Saini, Krutika Boriwal, Prashant Sharma   +3 more
doaj   +1 more source