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Results for “EXOSTOSES, MULTIPLE”

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At least 451 records · Page 25Linked to original sources
PubMed2003

[A rare cause of spinal cord compression: osteochondroma of the thoracic spine. A case report].

Osteochondroma or exostosis is the most common benign tumor of bone, but vertebral involvement is rare. The authors report the case of a 16 years old male with a family history of hereditary multiple exostoses who presented with spinal cord compression. MR examination showed an intraspinal extradural bone lesion at the T1-T2 level, hyperintense on T1 weighted and hypointense on T2 weighted images, causing marked cord deformity. The CT scan showed a tumor of the body and left pedicle of T2 with severe narrowing of the spinal canal.

Adolescent↗
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↗
PubMed1979

The Langer-Giedion syndrome: report of a 22-year old woman.

A 22-year-old woman with the Langer-Giedion syndrome and delayed puberty is presented. Pertinent features include a bulbous nose, sparse hair, protruding ears, multiple cartilaginous exostoses, cone-shaped phalangeal epiphyses, short stature, microcephaly, and mental retardation. She is the oldest patient thus far described with this condition, and is compared to the ten previously published cases. The clinical course of patients with the Langer-Giedion syndrome and the possibility of malignant change in the exostoses have not been established.

Adult↗
PubMed1988

[The treatment of old dislocations of the radial head in children by osteotomy of the upper end of the ulna. Apropos of 15 cases].

Fifteen old dislocations of the radial head in children were treated by open reduction combined with a high osteotomy of the ulna and a reconstruction of the annular ligament. This method, described by the authors in 1978, was used in nine post-traumatic, three congenital, two paralytic and one dislocation associated with multiple exostoses. Twelve children were reviewed with a follow-up of two to 11 years. Nine radial heads remained stable and well reduced. The three congenital dislocations recurred. Eight elbows showed normal alignment and the other four were only improved. Ten elbows had normal movement or better movement than before the operation. Eleven children used their elbow normally or better than before. In all, 14 children were improved, and only one elbow had unaltered function. The results obtained in congenital dislocations should be able to be improved by a number of technical precautions.

Child↗
PubMed1980

The Langer-Giedion phenotype associated with a unique skeletal finding in a mentally retarded adolescent male. A case report.

A case of a mentally retarded male patient with associated physical abnormalities resembling the multiple exostoses-mental retardation syndrome (MEMR, Langer-Giedion or Ale-Calo syndrome) is reported. The patient represents one of the most severe examples of this condition; he also has a triphalangeal thumb with double distal phalanges, a feature not reported previously.

Adolescent↗
PubMed1981

Exostosis: development, evolution and relationship to malignant degeneration.

The authors report a study of 408 cases of exostosis (318 single and 90 multiple) from the records of the Tumour Centre of the Rizzoli Institute. Special attention was paid to the relationship with peripheral chondrosarcoma, 73 cases of which are also in the records of the Institute, and were separately studied. The authors conclude that it is impossible to determine the incidence of malignant transformation of solitary exostosis. The incidence of malignant transformation of multiple exostoses in the present case material was 13 per cent, but the true incidence would undoubtedly be higher if all patients were followed up for life.

Adolescent↗
PubMed1995

BMP-1 sublocalization on human chromosome 8. Molecular anatomy and orthopaedic implications.

Bone morphogenetic proteins are capable of inducing mesenchymal tissue to form mature bone. Bone morphogenetic protein 1 (BMP-1) has a structure unique from the other bone morphogenetic proteins and may be involved in activation of other bone morphogenetic proteins. Localization of the human BMP-1 gene to chromosome 8 led to its consideration as a candidate gene for Langer-Giedion syndrome. Individuals with Langer-Giedion syndrome (also known as trichorhinophalangeal syndrome Type II) exhibit several skeletal abnormalities, including multiple exostoses and cone-shaped epiphyses of the hands and feet. The genetic locus responsible for this disease has been localized to the long arm of human chromosome 8 at 8q24.1. Somatic-cell hybrid and molecular biology techniques were used to sublocalize the BMP-1 gene to the short arm of chromosome 8 within the 8p22-cen region. Although this locus falls outside the Langer-Giedion syndrome region, and therefore excludes BMP-1 as a candidate gene for this disorder, BMP-1 gene sublocalization establishes a chromosomal landmark for evaluating other possible disease associations with BMP-1.

Animals↗
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↗
PubMedDate not supplied

Malignant transformation of solitary spinal osteochondroma in two mature dogs.

Canine osteochondroma is an uncommon bony tumor that arises in skeletally immature animals. Consequently, clinical signs typically occur in young dogs as a result of impingement of normal structures by the tumor. Radiographically, osteochondromas are benign in appearance. They are well circumscribed and cause no bony lysis nor periosteal proliferation. Osteochondromas may occur in two forms; solitary or multiple. Although histology and biologic behavior are identical, when in the multiple form the condition has been termed multiple cartilaginous exostoses. Malignant transformation of multiple cartilaginous exostoses has been reported in three mature dogs. We report two dogs with malignant transformation of solitary spinal osteochondromas. Both underwent transformation to osteosarcoma. Despite the benign radiographic appearance of osteochondromas and multiple cartilaginous exostoses, clinical signs should alert the clinician to the possibility of malignant transformation.

Age Factors↗
PubMed1999

The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate.

We previously demonstrated a unique alpha-N-acetylgalactosaminyltransferase that transferred N-acetylgalactosamine (GalNAc) to the tetrasaccharide-serine, GlcAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser (GlcA represents glucuronic acid), derived from the common glycosaminoglycan-protein linkage region, through an alpha1,4-linkage. In this study, we purified the enzyme from the serum-free culture medium of a human sarcoma cell line. Peptide sequence analysis of the purified enzyme revealed 100% identity to the multiple exostoses-like gene EXTL2/EXTR2, a member of the hereditary multiple exostoses (EXT) gene family of tumor suppressors. The expression of a soluble recombinant form of the protein produced an active enzyme, which transferred alpha-GalNAc from UDP-[3H]GalNAc to various acceptor substrates including GlcAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser. Interestingly, the enzyme also catalyzed the transfer of N-acetylglucosamine (GlcNAc) from UDP-[3H]GlcNAc to GlcAbeta1-3Galbeta1-O-naphthalenemethanol, which was the acceptor substrate for the previously described GlcNAc transferase I involved in the biosynthetic initiation of heparan sulfate. The GlcNAc transferase reaction product was sensitive to the action of heparitinase I, establishing the identity of the enzyme to be alpha1, 4-GlcNAc transferase. These results altogether indicate that EXTL2/EXTR2 encodes the alpha1,4-N-acetylhexosaminyltransferase that transfers GalNAc/GlcNAc to the tetrasaccharide representing the common glycosaminoglycan-protein linkage region and that is most likely the critical enzyme that determines and initiates the heparin/heparan sulfate synthesis, separating it from the chondroitin sulfate/dermatan sulfate synthesis.

Acetylgalactosamine↗
PubMed1993

The combined tensor fasciae latae/rectus femoris musculocutaneous flap: a possibility for major soft tissue reconstruction in the groin, hip, gluteal, perineal, and lower abdominal regions.

A 57-year-old man, with a long-lasting multiple hereditary cartilaginous exostoses, presented with a progressive tumor growth in the left iliac wing and in the gluteus maximus muscle. An open biopsy revealed a secondary chondrosarcoma, which had developed from an osteochondroma. A wide surgical resection, sparing the inferior limb, was the option for treatment. The fairly constant and reliable vascular anatomy of the lateral circumflex femoral artery, as confirmed by 27 previous anatomical dissections, gave us the opportunity to repair the wide postoperative defect by means of a single, very large flap, combining the vascular territories of the tensor fasciae latae and rectus femoris musculocutaneous flaps. The postoperative period was uneventful, and 1 year after surgery the man had no sign of local recurrence or metastases, and the flap was fully viable without sign of local complication. A functional evaluation was performed on a Kin-Com II dynamometer, showing major impairment of the limb that had undergone surgery. Despite the severe functional disturbance, the man prefers the impaired status to an amputation after a hemipelvectomy.

Abdominal Neoplasms↗
PubMedDate not supplied

Avascular necrosis of the capital femoral epiphysis in metachondromatosis.

A 6-year-old boy with metachondromatosis, an inherited disorder characterized by multiple enchondromas and exostoses, developed avascular necrosis of the capital femoral epiphysis mimicking Perthes disease. Despite containment, significant coxa magna occurred with flattening and lateral extrusion, requiring intertrochanteric osteotomy and shelf augmentation.

Bone Neoplasms↗
PubMed1992

The orthopaedic manifestations of the Langer-Giedion syndrome.

Less than 50 cases of Langer-Giedion syndrome (also known as trichorhinophalangeal syndrome with exostoses) have been reported in the English literature since its first description in 1974. Affected individuals have been described as having a bulbous nose, micrognathia, short stature, multiple cartilaginous exostoses, and large, protruding ears. We recently treated a 5-year-old, mentally retarded boy with Langer-Giedion syndrome for symptomatic multiple exostoses involving his proximal tibia and distal femur. This paper will highlight the musculoskeletal abnormalities found in this child and compare them to those of 43 patients reported in the world literature. The comparison reveals a very distinctive pattern of exostosis, demonstrating a primary altered growth pattern in the lower extremities and deformity secondary to marked ligamentous laxity. Orthopaedic surgeons are frequently the first consultants to see these children for their obvious osteochondromata. They must consider the diagnosis of Langer-Giedion syndrome to facilitate the treatment of its other manifestations.

Child↗
PubMed1986

Follow-up study of cartilaginous bone tumors.

A series of clinical and pathological studies were performed on 74 cartilaginous bone tumors including osteochondromas, multiple cartilaginous exostoses, chondromas, chondromatoses, benign chondroblastomas and chondrosarcomas. Resection was adequate for the osteochondromas, and no recurrence was observed. Out of 14 multiple cartilaginous exostoses, three, all in flat bones showed malignant change. The predominant sites of chondroma were the finger and toe bones, and curettage and bone graft was adequate treatment. Neither recurrence nor malignant change was observed. Two cases of chondromatosis, one of Ollier's disease and one of Maffucci's syndrome, were included in our series. Leg length discrepancy and pathologic fracture were common problems in chondromatosis. Moreover, malignant change was suspected in a hemangioma of the Maffucci's syndrome patient. Benign chondroblastoma was treated by curettage and bone graft, with no recurrence. In our series, 4 primary and 3 secondary chondrosarcomas were observed. Metastasis was seen in only one case. Because of the discrepancy between the biological behavior and histological findings of cartilaginous bone tumors, the malignancy of tumors should be evaluated by clinical signs and symptoms as well as by histological findings.

Adolescent↗