Occlusion of the popliteal and tibial artery complicating multiple exostoses.
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Adult↗
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Results for “EXOSTOSES, MULTIPLE”
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Familial progressive cardiac conduction disorder and multiple exostoses.
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Adolescent↗
[Multiple exostoses. The first 4 Congolese cases].
UNLABELLED: Multiple cartilaginous exostoses disease is a deforming chondrodysplasia with a single autosomal dominant transmission and complete penetrance. In this work, we report 4 Congolese cases diagnosed over a period of 10 years in the rheumatology department of the Brazzaville university hospital, with complete picture and familiar form. RESULTS: Number = 3 females and 1 male aged respectively 14, 18, 20 and 21 years, including 1 brother and 1 sister. Low height and weight, concave forearm, short ulneas, limitation in pronation and supination movement, bilateral knee valgus, ankle valgus, cubic feet. Dextroconvex dorsal scoliosis and blue sclera were observed. Multiple exostoses in descending metaphysis in 1/3 superior of the tibias, humerus, ulneas and peroneal bones; ascending of 1/3 lower of both femur, ulneas and tibias; at the level of great and small trochanters with enlargement of the metaphysis; superior radio-ulnar and peroneo-tibial synostosis; spina bifida in D1-D2; tomato shape of the pelvis. Exostosis is an benign ostochondroma of spongious bone. Because of the risk of the disease developing into cancer, regular control of patients is warranted.
Adolescent↗
3D-spiral CT of multiple exostoses.
We report pre- and post-operative three-dimensional (3D)-spiral CT images in a patient with multiple exostoses. Images of 3D-CT, which were performed using the integrated 3D software of the CT system, showed the exact shapes and locations of the individual tumors around the knee joint in comparison with the surgical findings and resected specimen. 3D-spiral CT images of multiple exostoses would be useful for the planning of surgical procedure.
Adolescent↗
A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online.
Hereditary multiple exostoses is a dominantly inherited disease characterized by multiple benign osteochondromas. The affected individuals have an increased risk of developing sarcoma. A large Finnish family with hereditary multiple exostosis was analyzed to find the disease-causing mutation. Blood samples were obtained from 35 family members, including 21 affected and 14 unaffected individuals. Using 2-point linkage analysis the EXT phenotype was shown to be linked to the recently cloned EXT2 gene on chromosome 11p11. The coding region of the gene was sequenced and a previously unreported splice site mutation found. This G to T transversion within a 5-prime splice donor site following exon 6 was shown to cause aberrant splicing of RNA. The described change is considered to be a novel disease-causing mutation in the EXT2 gene.
Alternative Splicing↗
Hereditary multiple exostoses with pseudoaneurysm.
A 16-year-old male patient with hereditary multiple exostoses (HME) was found to have a pseudoaneurysm of the left popliteal artery caused by osteochondroma in the lower femur. The diagnosis was confirmed by ultrasound, magnetic resonance imaging and magnetic resonance angiography without the need to perform an angiogram. The osteochondroma was excised and the popliteal artery was repaired with a saphenous graft. Vascular complications are extremely rare in HME, pseudoaneurysm being the most common and mostly located in the popliteal artery. This complication should be considered in young HME patients with a mass at the knee region. The radiological spectrum of investigations allows the diagnosis of this complication with proper and less invasive management procedures for the patient.
Adolescent↗
The hip in hereditary multiple exostoses.
We defined the characteristics of dysplasia and coxa valga in hereditary multiple exostoses (HME) by radiological analysis of 24 hips in 12 patients. The degree and effect of the 'osteochondroma load' around the hip were quantified. We investigated the pathology of the labrum and the incidence of osteoarthritis and of malignant change in these patients. Coxa valga and dysplasia were common with a median neck-shaft angle of 156 degrees, a median centre-edge angle of 23 degrees and Sharp's acetabular angle of 44 degrees. There was overgrowth of the femoral neck with a significantly greater ratio of the neck/shaft diameter in HME than in the control hips (p < 0.05), as well as correlations between the proximal femoral and pelvic osteochondroma load (p < 0.05) and between the proximal femoral osteochondroma load and coxa valga (p < 0.01). Periacetabular osteochondromas are related to Sharp's angle as an index of dysplasia (p < 0.05), but not coxa valga. No correlation was found between dysplasia and coxa valga. These data suggest that HME may cause anomalies of the hip as a reflection of a generalised inherited defect, but also support the theory that osteochondromas may themselves precipitate some of the characteristic features of HME around the hip.
Adolescent↗
Hereditary multiple exostoses. A rare cause of spinal cord compression.
A case of hereditary multiple exostoses (HME) with compression of the cervical cord, the cervical plexus, and the ulnar nerve is reported. Complete recovery following surgery was obtianed. Review of the literature revealed 21 previous cases of HME with cord compression. The cervical and thoracic areas are predominantly affected and the symptoms usually evolve slowly. Recovery after laminectomy is to be expected in the majority of the cases.
Adult↗
DNA polymorphism analysis of hereditary multiple exostoses in horses.
Genomic DNA polymorphisms obtained by restriction fragment-length polymorphism from healthy horses and horses with hereditary multiple exostoses were analyzed. These DNA were digested by 12 restriction enzymes and were hybridized against 6 isotopically labeled oncogene probes. Hybridization was not detected with the viral oncogene, v-ras, which indicated this oncogene was absent in the equine genome. Oncogenes (c-raf-1, c-fes, c-myb, c-myc, and c-sis) were present and had similar hybridization patterns and signal intensities in DNA from healthy horses and horses with hereditary multiple exostoses. Unique and distinct restriction fragment-length polymorphisms were detected with the c-raf-1 probe only in BamHI- and PstI-digested equine DNA.
Animals↗
Thoracic vertebral body exostosis as a cause of myelopathy in a patient with hereditary multiple exostoses.
The posterior thoracic vertebral body appears to be a novel origin for an exostosis causing myelopathy. A patient with hereditary multiple exostoses and myelopathy caused by an exostosis originating from the posterior aspect of the T5 vertebral body was treated with a staged anterior decompression/corpectomy and posterior spinal fusion. The patient had near-complete resolution of his myelopathy immediately after undergoing removal of the exostosis through a right-sided lateral thoracotomy approach. This was a unique origin for an exostosis causing spinal cord compression in a patient with hereditary multiple exostoses. The delivery of the exostosis was performed en bloc during the anterior decompression and corpectomy portion of the surgery. This resulted in the expected favorable outcome.
Adolescent↗
Function of the upper extremities in hereditary multiple exostoses.
The radiographic anatomy, functional status, and impairment ratings of twenty-eight patients (fifty-six extremities) who had hereditary multiple exostoses were evaluated. The patient (or the parent) also subjectively graded the function of each extremity with use of a standard rating-assessment tool. Degenerative joint disease was evident in three (5 per cent) of the fifty-six extremities at the time of follow-up, when the patients were an average of twenty-one years old. With use of the hand test of Jebsen et al., the average score was in the forty-seventh percentile for the dominant extremity and in the twenty-eighth percentile for the non-dominant extremity. Loss of pronation and supination increased with increasing age. Dislocation of the radial head was significantly associated with negative ulnar variance (p=0.008) and with the impairment rating (p=0.001), but not with the subjective score or with the performance on the hand test of Jebsen et al. So-called whole-person impairment ratings ranged from 0 to 17 per cent (average, 5 per cent). It has been our experience that deformities of the upper extremity in patients who have hereditary multiple exostoses are well tolerated and lead to little loss of function as measured both subjectively and objectively.
Adolescent↗
Intracanalicular osteochondroma producing spinal cord compression in hereditary multiple exostoses.
Spinal cord compression is an unusual but potentially catastrophic manifestation of hereditary multiple exostoses (HMEs). Isolated, osteochondromas are usually of little significance. However, if they are located near neurologic structures, they may cause irritation due to mechanical compression. In patients with HMEs who present with neck or back pain, and particularly in those who have neurologic symptoms in the upper or lower extremities, a diagnosis of intracanalicular osteochondroma should be presumed until proven otherwise. Prompt diagnosis and surgical excision affords the best prognosis for these patients who have spinal cord compression secondary to intracanalicular osteochondroma.
Adolescent↗
Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).
The occurrence of multiple exostoses in a carrier of a balanced translocation t(8;11) (q24.11;p15.5) is described. The breakpoint on chromosome 8 is at proximal q24.1 within the critical region reported for Langer-Giedion syndrome.
Adult↗
Chondrosarcoma in a family with multiple hereditary exostoses.
Multiple hereditary exostoses is an autosomal dominant skeletal disorder in which there are numerous cartilage-capped excrescences in areas of actively growing bone. The condition is genetically heterogeneous, and at least three genes, ext1, ext2 and ext3 are involved. The reported risk for malignant transformation to chondrosarcoma has been from 0.6% to 2.8%. We have reviewed six generations of a family with 114 living adult members, 46 of them with multiple exostoses. Four have had operations for chondrosarcoma, giving the risk for malignant transformation as 8.3% in this family. Clinical and radiological examination revealed two additional patients with a suspicion of malignancy, but in whom the histological findings were benign. Reported elsewhere in detail, genetic linkage analysis mapped the causative gene to chromosome 11 and molecular studies revealed a guanine-to-thymine transversion in the ext2 gene. Patients with multiple hereditary exostoses carry a relatively high risk of malignant transformation. They should be informed of this possibility and regularly reviewed.
Adolescent↗
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.
Multiple exostoses represent a genetically heterogeneous disorder that may occur isolated or as part of a complex contiguous gene syndrome such as Langer-Giedion syndrome on chromosome 8 and the proximal 11p deletion syndrome on chromosome 11. Here we describe a boy with multiple exostoses, hypertrichosis, mental retardation, and epilepsy due to a de novo deletion on chromosome 8q24. Molecular analysis revealed that the deletion interval overlaps with the Langer-Giedion syndrome and involves the EXT1 gene and additional genes located distal to EXT1, but probably not encompassing the TRPS1 gene located proximal to EXT1.
Abnormalities, Multiple↗
Isolation of the mouse cDNA homologous to the human EXT1 gene responsible for Hereditary Multiple Exostoses.
We have cloned and sequenced the mouse cDNA homologous to the human Hereditary Multiple Exostoses (EXT1) gene. The mouse homolog shows 94% similarity at the nucleotide level and 99% similarity at the protein level compared to the human gene. The 5' UTRs are unusually conserved for non-coding sequences showing 94% similarity compared to 80% for the 3' UTRs. The high level of evolutionary conservation between the EXT1 proteins as well as the 5' UTR suggests that each plays an important and related role in both species.
Amino Acid Sequence↗
Hereditary multiple exostoses with myelopathy.
A 58-year-old woman with hereditary multiple exostoses had slowly progressive myelopathy due to a vertebral exostosis that compressed the spinal cord at T1-2. She did not show skeletal deformities, but had numerous palpable long-bone exostoses. While CNS complications are rare in hereditary multiple exostosis, 17 other cases have been reported.
Exostoses, Multiple Hereditary↗