Results 71 to 80 of about 4,012 (251)

Solitary Metacarpal Osteochondroma; an Unusual Location

Medicine Science, 2014
Although, osteochondroma is the most common bone tumor, metacarpal involvement is quite uncommon and usually accompanies multiple hereditary exostoses.
Aziz Atik, Selahattin Ozyurek, Ozkan Kose, Kenan Koca, Ferhat Guler   +4 more
doaj   +1 more source

Osteohistology of the Maastrichtian, small‐bodied elasmosaurid Kawanectes lafquenianum (Sauropterygia; Plesiosauria)

Journal of Anatomy, Volume 247, Issue 3-4, Page 466-487, September/October 2025.
The present contribution brings new osteohistological information on the postcranial bones of Kawanectes lafquenianum and shed some light on Plesiosauria microanatomy and microstructure. The bone architecture shows variability between forelimbs and hindlimbs.
M. E. Pereyra, J. O'Gorman, A. Chinsamy
wiley   +1 more source

Genetic hearing loss: a study of 228 Brazilian patients [PDF]

, 2000
We studied 228 patients, with suspected or confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each case.
Brunoni, Decio, Longhitano, Silvia Bragagnolo   +1 more
core   +3 more sources

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

Therapeutics and Clinical Risk Management, 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 ...
Akbaroghli S, Balali M, Kamalidehghan B, Saber S, Aryani O, Yong Meng G, Houshmand M   +6 more
doaj  

Hereditary multiple exostoses: report of a kindred. [PDF]

Journal of Medical Genetics, 1981
In a large family with 37 members with multiple exostoses, only one person has developed sarcomatous degeneration of a lesion. Our review of published reports revealed great variation in the incidence of malignancy in multiple exostoses (10 to 25%). Most studies had sampling errors leading to the apparent overstatement of risk.
Roger L. Ladda, S L Gordon, J R Buchanan
openaire   +3 more sources

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

Pain and Depression in Pediatric Hereditary Multiple Exostoses Patients

Acta Medica Alanya, 2019
Aim: In this study, we sought to evaluate the complications of Hereditary Multiple Exostosis (HME) particularly the presence of pain, and its effects on pediatric and adolescent groups.Patients and Methods: 72 (37male/32female) patients aging between 10 ...
Osman Emre Aycan
doaj   +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

A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis [PDF]

, 2001
Hereditary multiple exostoses (EXT) is an autosomal dominant disease characterized by the formation of cartilage-capped prominences (exostoses) that develop from the juxta-epiphyseal regions of the long bones.
Ahn J, Arms DM, C Y Xiao, G Zhang, H Wu, Hecht JT, Hennekam R, J Wang, Lathrop GM, Le Merrer M, Lind T, McCormick C, Miller SA, Porter DE, Raskind WH, S Z Zhang, Schmale G, Solomon L, Stickens D, Sugiura Y, Tang Y, Van Hul W, Vasseur MA, W M Qiu, W Van Hul, W Wuyts, Walsh PS, Wicklund CL, Wise CA, Wuyts W, Wuyts W, Wuyts W, Wuyts W   +32 more
core   +2 more sources

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