Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family [PDF]
Mol Med Rep, 2020 Yiqiang Li +5 more
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A Family with Hereditary Multiple Exostoses [PDF]
Eurasian Journal of Family Medicine, 2021 Hereditary multiple exostoses is a rare autosomal dominant genetic disorder characterized by multiple exostoses (osteochondromas), mostly diagnosed in childhood. It may manifest with a wide spectrum from asymptomatic to skeletal deformities or neurovascular complications.
openaire +1 more source
Osteochondroma of the proximal humerus with frictional bursitis and secondary synovial osteochondromatosis [PDF]
, 2015 We report a case of multiple hereditary exostosis in a 33-year old patient with clinical symptoms of pain and impression of a growing mass of the left shoulder alerting potential risk of malignant transformation of an osteochondroma.
De Groote, J +3 more
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Targeted Disruption of Shp2 in Chondrocytes Leads to Metachondromatosis With Multiple Cartilaginous Protrusions [PDF]
, 2014 Metachondromatosis is a benign bone disease predominantly observed in the hands and feet of children or young adults demonstrating two different manifestations: a cartilage‐capped bony outgrowth on the surface of the bone called exostosis and ectopic ...
Chen, Di +4 more
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Arthroscopic management of an intraarticular osteochondroma of the hip. [PDF]
, 2009 The role of hip arthroscopy in the management of femoroacetabular impingement (FAI) has been advancing rapidly. In this case report, we describe the use of hip arthroscopy to successfully treat a femoral neck osteochondroma that caused a symptomatic ...
Feeley, Brian T, Kelly, Bryan T
core +3 more sources
Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses [PDF]
, 2015 Las formas hereditarias de exostosis múltiple, actualmente denominada EXT1/EXT2-CDG dentro de los desórdenes congénitos de la glicosilación, son los tumores óseos benignos más comunes y se caracterizan por la formación de lesiones óseas cubiertas de ...
Asteggiano, Carla Gabriela +11 more
core +1 more source
A child having rare Hereditary Multiple Exostosis with Covid-19 disease: A case study [PDF]
, 2022 : Hereditary Multiple Exostosis is a rare bone disease in pediatric age group. It is an autosomal dominant disorder, characterized by excessive bony overgrowth arising from lateral aspect of metaphysis of long bone, covered by a cartilaginous cap.
Hasnat, F +3 more
core +1 more source
Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva. [PDF]
, 1993 Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva.
Beluffi G +4 more
core +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
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 +3 more
doaj +1 more source