Anterior C1 osteochondroma

Tbini, Makram; Lahiani, Rim; Kharrat, O.; Riahi, I.; Bensalah, Mamia

doi:10.1016/j.jbspin.2021.105305

Cited by 1 publication

(1 citation statement)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition, other locations including pelvis, vertebrae and carpal/tarsal bones were reported in previous studies ( 26 , 32 ), whereas these locations were not observed in the pedigree of the present study. Recently, surgeons have also reported osteochondroma at rare locations, such as C1 and C2 ( 33 , 34 ). It has been reported that a patient with HME is generally burdened with an average of six exostoses ( 1 ), and the results of the present study were consistent with this finding.…”

Section: Discussionmentioning

confidence: 99%

Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation

et al. 2022

View full text Add to dashboard Cite

The aim of the present study was to report a clinical survey of hereditary multiple exostoses (HMe) in a large Chinese pedigree, and the identification of a novel deletion mutation of exostosin glycosyltransferase 2 (EXT-2) gene. a patient with multiple exostoses with huge cartilage-capped tumors in scapula, knees and ankles received surgery in department of orthopedics (Shanghai changhai Hospital). a total of 20 family members were recruited to the study, with seven members (five male; two female) diagnosed as HMe. The family members of the patients with HMe were examined, clinical data and peripheral blood samples were collected, and their dna was sequenced. The incidence of HMe in this family pedigree was 35%. exostoses were most frequently in the tibiae with occurrence in six patients, followed by ribs, femurs, radii, fibulae, scapulae and humeri. dna sequencing of peripheral blood revealed a novel deletion mutation, c.824-826delGca, in exon 5 of the EXT-2 gene, which was observed in all the patients with HMe, but not in the healthy family members. Several characteristics of HMe in the pedigree were observed, such as susceptibility of male gender, decreased average age of onset and height and increased severity of clinical symptoms with generations.

show abstract