Results 81 to 90 of about 18,213 (191)

One-stage surgical excision of a huge bilateral multiple osteochondroma of the hip: a case report

Electronic Physician, 2017
Osteochondroma or hereditary multiple exostoses is the most common benign bone tumor and is usually found in young patients. Osteochondromata of the proximal femur or hip have been reported in 30% to 90% of patients with hereditary multiple exostoses ...
Afshin Taheriazam, Amin Saeidinia
doaj   +1 more source

Wilms Tumor in Children With AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series

Pediatric Blood &Cancer, Volume 72, Issue 8, August 2025.
ABSTRACT Background 10–15% of children with Wilms tumor (WT) have predisposing genetic syndromes. Somatic mutations are frequently identified; however, germline pathogenic variants in AMER1 are much less prevalent and are associated with osteopathia striata with cranial sclerosis (OSCS).
Insiyah Campwala, Jaclyn Schienda, Andrew J. Murphy, Basil Hashimi, Taylor Perry, Nicholas Cost, Junne Kamihara, Elizabeth A. Mullen, Teresa Santiago, Marcus M. Malek   +9 more
wiley   +1 more source

Dentigerous cysts in horses: A retrospective study

Equine Veterinary Education, Volume 37, Issue 8, Page 427-434, August 2025.
Summary Background Dentigerous cysts are well‐known congenital defects in horses, and the literature on this condition is extensive. Recently, a third type of dentigerous cyst, associated with an exostosis arising from the temporal bone, has been described.
M. Schläpfer, B. Donati, A. E. Fürst, M. A. Jackson   +3 more
wiley   +1 more source

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi, Carmela Fusco, Rosamaria Mura, Carla Cerruto, Leonardo D'Agruma, Salvatore Carnazzo, Marco Castori, Salvatore Savasta   +7 more
wiley   +1 more source

Hereditary multiple exostoses in a15-year-old boy: A case report and review of literature

Nigerian Journal of Paediatrics, 2016
Background: Hereditary Multiple Exostoses (HME) is a rare bone disease, usually associated with deformity and pressure symptoms. It is an autosomal dominant disorder characterized by the development of benign tumours growing outward from the metaphyses ...
Eke GK , Omunakwe HE , Echem RC
doaj  

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients

BMC Medical Genetics, 2017
Background Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations.
Yuchan Li, Jian Wang, Zhigang Wang, Jingyan Tang, Tingting Yu   +4 more
doaj   +1 more source

Hereditary multiple exostoses

, 2022
Pir Abdul Ahad Qureshi
openalex   +1 more source

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate

, 2022
Caixia Xian, Mingwei Zhu, Tianying Nong, Yiqiang Li, Xing-Mei Xie, Xia Li, Jiangui Li, Jingchun Li, Jian Wu, Weizhe Shi, Ping Wei, Hongwen Xu, Ya‐Ping Tang   +12 more
openalex   +1 more source

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

Prague Medical Report, 2017
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová   +9 more
doaj   +1 more source

Genotype-phenotype correlation in hereditary multiple exostoses [PDF]

, 2001
Christine Francannet, A Cohen-Tanugi, M Le Merrer, A Munnich, J Bonaventure, L Legeai-Mallet   +5 more
openalex   +1 more source