ArticleJournal of clinical medicine2022
A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients.
Article in Journal of clinical medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Orthopedic preoperative evaluation and surgical strategies of hereditary multiple osteochondromas involving the spinal region.EFORT open reviews · 2026Review
- Brachial Artery Pseudoaneurysm as a Complication of Osteochondral Exostosis of the Humerus in Computed Tomography Angiography Images.Diagnostics (Basel, Switzerland) · 2026Article
- Article
- Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.Turkish archives of pediatrics · 2023Article
- Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene.Molecular cytogenetics · 2023Article
- Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.Medicina (Kaunas, Lithuania) · 2022Article
- Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.Genes · 2022Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple hereditary exostoses (MHE) is a rare autosomal dominant skeletal disorder with a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of MHE using our own scoring system and analyzed the risk factors associated with severe clinical phenotypes. In this study, 43 patients from 30 families were analyzed. The mutations were identified by direct sequencing of polymerase chain reaction-amplified genomic DNA or by multiplex ligation-dependent probe amplification. According to a new scoring system devised by the authors, the severity of the phenotype was assessed as mild, moderate, or severe based on the deformity of each segment, number of exostoses, leg length discrepancy, and functional limitations. Of 43 patients from 30 families, 39 patients (90.7%) and 24 families (80%) presented with EXT1 or EXT2 mutations. Patients with EXT1 mutations had a significantly worse phenotype than that of patients with EXT2 mutations or without any detectable mutation. The mean clinical score of patients with an EXT1 mutation (5.76; range, 2.0-8.0; SD = 1.60) was higher than that of patients with an EXT2 mutation (4.06; range, 2.0-7.0; SD = 1.47) or of those without any detectable mutation (4.63; range, 3.0-6.0; SD = 1.44;
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