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 +4 more
doaj +1 more source
A novel nonsense mutation of EXT1 gene in an Argentinian patient with Multiple Hereditary Exostoses [PDF]
, 2012 Multiple hereditary exostoses (MHE), also known as multiple osteochondromatosis, is an autosomal-dominant O-linked glycosylation disorder recently classified as EXT1/EXT2-CDG in the congenital disorder of glycosylation (CDG)nomenclature.
Asteggiano, Carla Gabriela +9 more
core +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 +9 more
doaj +1 more source
Clinical study of the treatment of digital exostosis by introducing a biocompatible gel [PDF]
Antecedentes. La exóstosis digital es una patología común que se presenta con frecuencia en las consultas de podología. A pesar del alto grado de incidencia es una entidad clínica muy poco estudiada.
Bonill a Toyos, Elvira Mª +5 more
core +2 more sources
Multiple osteochondromas [PDF]
, 2008 Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. The prevalence is estimated at 1:50,000, and it seems to be higher in males (male-to-female ratio 1.5:1 ...
Bovée, Judith VMG
core +3 more sources
Importância do estudo multigénico no diagnóstico molecular de doenças raras por sequenciação de nova geração [PDF]
, 2019 Introdução: A sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular das doenças raras (DR) proporcionando a análise de um maior número de genes, resultados mais rápidos e custos reduzidos. A NGS usando diferentes abordagens, possibilita
Gonçalves, João +4 more
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Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management [PDF]
, 2004 Multiple Osteochondromas is an autosomal dominant disorder characterised by the presence of multiple osteochondromas and a variety of orthopaedic deformities.
Bovée, Judith VMG +4 more
core +4 more sources
Hereditary multiple exostoses and porencephaly in a Nigerian child: a case report
The Pan African Medical Journal, 2018 Hereditary multiple exostoses (HME) is a rare condition that is characterised by the outgrowth of bony swellings, usually from the growth ends of long bones. It is autosomal dominant, and may result in debilitating deformities.
Idris Abiodun Adedeji +4 more
doaj +1 more source
Osteochondroma of the mandibular condyle: Resection and reconstruction using vertical sliding osteotomy of the mandibular ramus [PDF]
, 2009 Osteochondroma is one of the most common benign bone tumours, although not in the craniofacial region. More than half of these appear in the coronoid process.
Escrig de Teigeiro, M. +4 more
core
Two cases of asymptomatic rib exostosis treated by prophylactic surgical excision
Journal of Pediatric Surgery Case Reports, 2017 Exostosis is one of the most common benign bone lesions. It could be a solitary lesion or multiple lesions presented as part of HME. This condition often affects the metaphyseal region of long bones, including femur, tibia, humerus and ribs.
Kenichi Maeda +11 more
doaj +1 more source