BMC Med Genet 2017 11 10;18(1):126. Epub 2017 Nov 10.
Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
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Clin Orthop Relat Res 2007 Sep;462:73-9
University of British Columbia, Faculty of Medicine, Division of Pediatric Orthopaedics, Department of Orthopaedics, British Columbia Children's Hospital, Vancouver, BC, Canada.
Hereditary multiple exostosis (HME) is an autosomal dominant condition resulting predominantly from mutations in the exostosin 1 (EXT1) and exostosin 2 (EXT2) genes. We asked two questions in our study: first, what is the anatomic burden of subjects with HME; second, is there a difference in anatomic burden in subjects with EXT 1 versus EXT 2. The anatomic burden experienced by HME patients was defined according to three domains: (1) lesion quality; (2) limb malalignment and deformity; and (3) limb segment lengths and percentile height. Read More
J Orthop Res 2007 Dec;25(12):1541-51
Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany.
Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder with a wide spectrum of clinical manifestations. In 52 out of 60 individuals from HME+ families, exostoses became clinically apparent. In this study, the clinical and radiological outcome of these 52 HME patients (19 families) was investigated by medical history, clinical examination, and radiographs. Read More
J Bone Joint Surg Am 2011 Dec;93(24):2294-302
Department of Medical Genetics and Skeletal Rare Diseases, Rizzoli Orthopaedic Institute, Bologna, Italy.
Background: Multiple hereditary exostoses is an autosomal dominant skeletal disorder characterized by wide variation in clinical phenotype. The aim of this study was to evaluate whether the severity of the disease is linked with a specific genetic background.
Methods: Five hundred and twenty-nine patients with multiple hereditary exostoses from two different European referral centers participated in the study. Read More
Zhongguo Dang Dai Er Ke Za Zhi 2014 Feb;16(2):174-80
Department of Peadiatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100005, China.
Objective: Hereditary multiple exostoses (HME) is an autosomal dominant monogenic disorder of paraplasia ossium. Mutations in EXT1 and EXT2 have been suggested to be responsible for over 70% of HME cases. This study aimed to analyze the clinical features and pathogenic mutations in a Chinese family with HME (6 patients in 24 members of 3 generations) and to review the relative literature regarding mutations in EXT1 and EXT2 in the Chinese population. Read More