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Results for “EXOSTOSES, MULTIPLE”

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PubMed1979

Paraparesis in hereditary multiple exostoses: case report.

The authors report a case of hereditary multiple exostoses (HME) with neurologic complications, and review the literature. A 23-year-old man exhibited a worsening spastic paraparesis with sphincter dysfunction. The cranial nerves and the exteroceptive and deep sensations were apparently undamaged. The family history, the physical examination, and the systemic radiologic examination revealed all the characteristics of HME. The neurologic complication was caused by an exostosis, arising from the C2 right hemilamina, compressing the spinal cord. The patient quickly improved after a laminectomy.

Adult↗
PubMed1993

Cervical cord compression in hereditary multiple exostoses.

A seven year old girl, known to have hereditary multiple exostoses, developed moderate gait disorders at the age of six years. Deterioration of myelopathy initiated the clinical investigation including spinal computed tomography (CT) and magnetic resonance imaging (MRI). These examinations demonstrated a coneshaped exostosis originating from the posterior arch of C2. The spinal canal was markedly narrowed with significant compression of the spinal cord at the C2 level. The girl underwent laminectomy of C2 with total removal of the exostosis. Postoperative deterioration of neurological symptoms correlated with a hypointense lesion on T1 weighted imaging in the cord at the same level, but no further cord compression on follow-up MRI. The spastic tetraparesis has improved considerably within 12 months thereafter.

Child↗
PubMed1993

Genetic heterogeneity in families with hereditary multiple exostoses.

We have carried out a linkage analysis on 11 families segregating gene(s) for hereditary multiple exostoses (EXT). Four highly informative, short tandem-repeat (STR) markers that have been physically mapped to an interval surrounding the Langer-Giedion chromosomal region (8q24.11-q24.13) were used in a multipoint linkage analysis. Significant evidence for linkage of EXT with genetic heterogeneity was found. A model of heterogeneity with linkage of the disease gene to the STR markers in 70% of the families (with a 95% confidence interval of 26%-96%) produced a maximum LOD score of 8.11, with the most likely position of EXT between D8S85 and D8S199. Thus there are at least two genes that are capable of causing hereditary multiple exostoses, one in the Langer-Giedion region and one at another, unlinked location.

Cell Line↗
PubMed1996

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes.

Hereditary multiple exostoses (EXT) is an autosomal dominant condition characterized by short stature and the development of bony protuberances at the ends of all the long bones. Three genetic locl have been identified by genetic linkage analysis at chromosomes 8q24.1, 11p11-13 and 19p. The EXT1 gene on chromosome 8 was recently identified and characterized. Here, we report the isolation and characterization of the EXT2 gene. This gene shows striking sequence similarity to the EXT1 gene, and we have identified a four base deletion segregating with the phenotype. Both EXT1 and EXT2 show significant homology with one additional expressed sequence tag, defining a new multigene family of proteins with potential tumour suppressor activity.

Amino Acid Sequence↗
PubMed1986

Lengthening the ulna in patients with hereditary multiple exostoses.

Deformity of the forearm is common in patients with hereditary multiple exostoses, producing cosmetic and functional impairment in which shortening of the ulna is a significant factor. The results of ulnar lengthening in 10 forearms of eight patients are reported. Lengthening was performed by osteotomy of the shaft followed immediately by a bone graft and internal fixation, or by gradual distraction with an external fixator. In all patients the appearance was improved and the range of radial deviation at the wrist was increased. In most patients forearm movement and radial head stability were improved. Partial recurrence of the deformity was seen during the follow-up of skeletally immature patients, but in general ulnar lengthening was found to be a useful operation.

Adolescent↗
PubMed1995

Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11.

Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant condition characterized by growth of multiple benign cartilage-capped tumors. EXT greatly increases the relative risk to develop chondrosarcoma, although most chondrosarcomas are sporadic. This observation suggests that, like the genes responsible for retinoblastoma and other dominantly inherited cancer susceptibility disorders, the genes that cause EXT may have tumor-suppressor function and may play a role in the pathogenesis of the related sporadic tumors. To investigate this hypothesis, we evaluated chondrosarcomas for loss of constitutional heterozygosity (LOH) at polymorphic loci linked to three recently identified genomic regions containing genes involved in EXT. LOH for markers linked to EXT1 on chromosome 8 was detected in a chondrosarcoma that arose in a man with EXT. Four of 17 sporadic tumors showed LOH for markers linked to EXT1, and 7 showed LOH for markers linked to EXT2 on chromosome 11. In all, LOH was observed for markers linked to EXT1 or EXT2 in 44% of the 18 tumors, whereas heterozygosity was retained for markers on 19p linked to EXT3. These findings support the hypothesis that genes on 8q and the pericentromeric region of 11 have tumor-suppressor function and play a role in the development of chondrosarcomas.

Alleles↗