Results 31 to 40 of about 3,566 (172)

Hereditary Multiple Exostoses with Ulnar Hemimelia

Proceedings, 2021
Hereditary Multiple Exostoses is a skeletal dysplasia that is very rare and defined by formation of numerous cartilage capped benign tumours either pedunculated or sessile known as osteochondromas throughout skeleton especially around the growth plates ...
Syed Wasif Ali Shah, Muhammad Abdul Shakoor, Usman Amjad, Haider Ali, Waleed Imtiaz, Shafqat Raza   +5 more
doaj   +1 more source

C2 intraspinal osteochondroma causing spinal cord compression in a patient with multiple hereditary exostoses

Indian Spine Journal, 2022
Intraspinal osteochondroma causing neurological manifestations is a rare condition and can present as either solitary osteochondroma or more commonly as a part of multiple hereditary exostoses. We report a case of osteochondroma arising from lamina of C2
Janardhana P Aithala
doaj   +1 more source

A Case of Multiple Exostoses [PDF]

Annals of Surgery, 1893
n ...
openaire   +1 more source

Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses

Journal of the Formosan Medical Association, 2006
Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autoso-mal dominant disorder characterized by the presence of multiple exostoses on the long bones.
Wen-Chau Chen, Chih-Hsien Chi, Chia-Chang Chuang, l-Ming Jou   +3 more
doaj   +1 more source

CASES OF MULTIPLE EXOSTOSES. [PDF]

The Lancet, 1902
n ...
openaire   +1 more source

Congenital multiple exostoses with congenital heart disease

Medical Journal of Dr. D.Y. Patil University, 2017
Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases.
Ibrahim Aliyu, Teslim O Lawal
doaj   +1 more source

Osteochondroma of rib cage in a case of HME: A rare presentation

Journal of Orthopaedic Reports, 2023
Background: Osteochondroma is the most common benign bone tumor. This aberrant developmental lesion of the bone in the rib is rare and forms part of multiple diaphyseal aclasia in some cases.
Saroj prasad Sah, Vikas Maheshwari, Aditya K.S. Gowda, Bom Bahadur, Robin Yadav, Mohit Dhingra   +5 more
doaj   +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

Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant

The Turkish Journal of Pediatrics, 2023
Background. Tricho-rhino-phalangeal syndrome (TRPS) is a rare, autosomal dominant disorder characterized by typical craniofacial features, ectodermal and skeletal findings.
Nuray Öztürk, Gökcen Karamık, Hatice Mutlu, Öznur Yılmaz Bayer, Ercan Mıhçı, Gökhan Ozan Çetin, Banu Nur   +6 more
doaj   +1 more source

Arthroscopic Anterior Cruciate Ligament Reconstruction in a 17-Year-Old Female Athlete with Multiple Hereditary Exostoses Using a Peroneus Longus Autograft: A Rare Case Report

Journal of Orthopaedic Case Reports
Introduction: Hereditary multiple exostoses, also known as multiple osteochondromas, is a rare genetic disorder marked by the formation of osteocartilaginous outgrowths predominantly near the metaphysis of long bones.
Sanjay Singh Chauhan, Harshita Udiwal, Narendra Singh Butola   +2 more
doaj   +1 more source