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Results for “Exostoses, Multiple Hereditary”

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PubMedDate not supplied

Corrective cosmetic supramalleolar osteotomy for valgus deformity of the ankle joint: a report of two cases.

Valgus deformity of the ankle joint can cause pain in walking and a significant gait disturbance because of the altered ankle mechanics and the secondary planovalgus deformity of the foot. A technique of supramalleolar osteotomy that is cosmetically better than a closing wedge osteotomy for correction of this condition is described in two patients with hereditary multiple exostoses. The osteotomy is inherently stable, and minimal or no internal fixation is needed.

Ankle↗

PubMed1989

[Operations for lengthening the upper limbs in children and adolescents].

We report 16 cases of lengthening of the upper limb: 4 humerus, 12 ulna from 1976 to 1987. Humerus lengthening are progressive with Wagner apparatus. They gave lengthening from 7.5 to 12 cm. There were no important complication. Ulna lengthening were done in patients with multiple hereditary osteochondromes and hereditary multiple exostoses, to correct the deformities of the forearm, and prevent dislocation of the proximal radial head. Actually progressive lengthenings replace immediate ones with radial osteotomy.

Adolescent↗

PubMedDate not supplied

[Familial dermo-chondro-corneal dystrophy (François' syndrome)].

The François' syndrome associates disseminated firm nodular subcutaneous lesions, a deforming arthropathy and a corneal dystrophy. Inheritance seems to be recessive. Six cases of this rare syndrome have been previously published. The syndrome is reported here in two Mexican brothers. In the authors' opinion the François' syndrome is not related to the xanthomatoses. It should be considered as a genetically recessive arthropathic nodular fibromatosis.

Child↗

PubMed1993

Differential diagnosis of pedal osseous neoplasms.

Topics discussed in this article include osteogenic sarcoma, osteoid osteoma, osteoblastoma, chondrosarcoma, chondromyxoid fibroma, chondroblastoma, chondroma, Ollier's disease, Maffucci's syndrome, osteochondroma, hereditary multiple exostoses, unicameral bone cyst, fibrous dysplasia, Albright's syndrome, nonossifying fibroma, giant cell tumor, Ewing's sarcoma, and metastasis. Numerous radiographs, CT scans, MR images, arteriograms, and photomicrographs supplement the text.

Bone Neoplasms↗

PubMed1993

Osteochondroma of the knee.

This article discusses a case of osteochondroma suffered by a female patient. The typical clinical and radiographic signs and symptoms are presented. Osteochondromas may be pedunculated or sessile. Malignant transformation ranges from 1% for solitary lesions to 20% for hereditary multiple exostoses. If transformation occurs, chondrosarcoma usually develops. Most lesions are asymptomatic and require no treatment.

Adult↗

PubMed1975

[Multiple cartilaginous exostoses with polyposis of stomach and colon: a new, hereditary combination different from Gardner's syndrome (author's transl)].

Multiple cartilaginous exostoses were found in a 41-year-old man and his two sons, aged 11 and 15 years. The older boy had extensive polyposis of the sigmoid colon and gastric antrum, his brother had radiological changes suspicious of sigmoid polyposis, while there was no radiological evidence of polyposis in the father. None of them had any symptoms of polyposis. The described combination of findings suggests a separate entity from Gardner's syndrome, perhaps on the basis of a combined dominant gene inheritance. In case of multiple exostoses radiological and endoscopic examination of the gastro-intestinal tract for polyposis are indicated.

Adolescent↗

PubMed1995

[Multiple cartilagenous exostoses].

This is a review of aspects of hereditary multiple exostosis relevant for the orthopedic surgeon. The autosomally dominant hereditary disease with great individual expression is the result of dysplasia of the peripheral growth plate. During growth exostosis can induce severe secondary deformities and reduction of joint mobility, especially the forearm, knee and ankle. Treatment is surgical with the removal of symptom-producing exostoses the most common procedure. For corrective surgery careful preoperative planning, careful choice of treatment modality and sustained follow-up are necessary. The nearly 1% risk of malignant transformation, most frequently to low-grade chondrosarcoma, must be monitored. A rare complication is cervical cord compression.

Cell Transformation, Neoplastic↗

PubMed1995

[A rare complication of multiple exostoses: hemothorax].

BACKGROUND: Hemothorax is a rare complication of hereditary multiple exostosis. CASE REPORT: A 12 year-old boy suffered from abrupt thoracic pain, firstly attributed to pleural effusion. He had hereditary multiple exostosis known since the age of 9 years. The patients was given anti-inflammatory drugs and erythromycin but the pleural effusion became more abundant 6 days later requiring thoracentesis which showed hemothorax. All bacteriological and cytologic investigations were negative. X rays, ultra-sonography and CT scan showed several costal exostoses developing into the thoracic cavity. The hemothorax disappeared within 12 days and the patient was well 4 months later, without pleural sequelae. CONCLUSIONS: Hemothorax may be due to internal costal exostosis. It may be cured with thoracentesis; more aggressive therapy should be performed in exceptional cases with severe and/or recurrent bleeding.

Child↗

PubMed1997

Genomic organization and promoter structure of the human EXT1 gene.

Hereditary predisposition to multiple exostoses is a genetically heterogeneous disease. Recently, we have reported the identification of the EXT1 gene on human chromosome 8. We have now isolated a cDNA clone from a human adult lung cDNA library and have determined the genomic organization and promoter structure of the EXT1 gene. The gene is composed of 11 exons, ranging from 90 to 1735 bp, and spans approximately 350 kb of genomic DNA. Sequence analysis of the promoter region revealed the presence of a CpG island containing GC and CAAT boxes, but no TATA box. Such a promoter is characteristic for housekeeping genes. This finding is in good agreement with the ubiquitous expression of the EXT1 gene.

Adult↗

PubMed1955