Clinical outcome and genotype in patients with hereditary multiple exostoses†
Corresponding Author
Marcus Jäger
Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany
Department of Orthopedic Surgery, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, Massachusetts 02115
Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany, Telephone: +49 (0)211 81 16036; Fax: +49 (0)211 81 16281.Search for more papers by this authorBettina Westhoff
Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany
Search for more papers by this authorSebastian Portier
Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany
Search for more papers by this authorBarbara Leube
Institute of Human Genetics and Anthropology, Heinrich-Heine University Hospital Duesseldorf, Universitätsstr. 1, D-40225 Duesseldorf, Germany
Search for more papers by this authorKarin Hardt
Institute of Human Genetics and Anthropology, Heinrich-Heine University Hospital Duesseldorf, Universitätsstr. 1, D-40225 Duesseldorf, Germany
Search for more papers by this authorBrigitte Royer-Pokora
Institute of Human Genetics and Anthropology, Heinrich-Heine University Hospital Duesseldorf, Universitätsstr. 1, D-40225 Duesseldorf, Germany
Search for more papers by this authorGeorg Goßheger
Department of Orthopaedics, Münster University Medical School, Albert-Schweitzer-Str. 33, D-48149 Münster, Germany
Search for more papers by this authorRüdiger Krauspe
Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany
Search for more papers by this authorCorresponding Author
Marcus Jäger
Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany
Department of Orthopedic Surgery, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, Massachusetts 02115
Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany, Telephone: +49 (0)211 81 16036; Fax: +49 (0)211 81 16281.Search for more papers by this authorBettina Westhoff
Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany
Search for more papers by this authorSebastian Portier
Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany
Search for more papers by this authorBarbara Leube
Institute of Human Genetics and Anthropology, Heinrich-Heine University Hospital Duesseldorf, Universitätsstr. 1, D-40225 Duesseldorf, Germany
Search for more papers by this authorKarin Hardt
Institute of Human Genetics and Anthropology, Heinrich-Heine University Hospital Duesseldorf, Universitätsstr. 1, D-40225 Duesseldorf, Germany
Search for more papers by this authorBrigitte Royer-Pokora
Institute of Human Genetics and Anthropology, Heinrich-Heine University Hospital Duesseldorf, Universitätsstr. 1, D-40225 Duesseldorf, Germany
Search for more papers by this authorGeorg Goßheger
Department of Orthopaedics, Münster University Medical School, Albert-Schweitzer-Str. 33, D-48149 Münster, Germany
Search for more papers by this authorRüdiger Krauspe
Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany
Search for more papers by this authorThe First two authors contributed equally to this work.
Abstract
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. In addition to correlating phenotype with genotype, a linkage/exclusion analysis was performed in 35 HME patients. We found several correlations between HME genes (EXT1, EXT2) and phenotype. Compared to EXT2-linkage, female individuals with EXT1-linkage were smaller in stature. Patients with EXT1-linkage and patients with undetermined linkage (EXT?) were more severely affected, underwent more surgeries, and showed a higher number of exostoses at follow-up. Moreover, we found an increased phenotype risk for limb shortening for EXT1- and EXT?-linkage. This study corresponds to data of other investigators who showed that EXT1 mutations are associated with a more severe phenotype than other EXT forms. © 2007 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 25:1541–1551, 2007
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