Reconstruction of the Hip in Multiple Hereditary Exostoses
The hip joint involvement in multiple hereditary exostoses (MHE) occurs in 30–90%, causing pain and limitation of motion by femoroacetabular impingement, coxa valga, acetabular dysplasia, hip joint subluxation, and osteoarthritis.
Dong Hoon Lee, Dror Paley
doaj +1 more source
Arthroscopic management of an intraarticular osteochondroma of the hip. [PDF]
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
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Targeted Disruption of Shp2 in Chondrocytes Leads to Metachondromatosis With Multiple Cartilaginous Protrusions [PDF]
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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Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses [PDF]
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
Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva. [PDF]
Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva.
Beluffi G +4 more
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Multiple exophytic osteomas of craniofacial bones not associated with Gardner s Syndrome: a case report [PDF]
Exophytic osteomas are mature bone protuberances required to be carefully differentiated from other lesions. The authors present a male, 44 year-old patient s report presenting multiple exophytic osteomas located in both sides of the vestibulomaxillary ...
Mazzoni, Alessandra +3 more
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Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses
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
A child having rare Hereditary Multiple Exostosis with Covid-19 disease: A case study [PDF]
: 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
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Congenital multiple exostoses with congenital heart disease
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
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki +6 more
wiley +1 more source

