1/33. Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate.Leri-Weill syndrome (LWS) is a dominant (pseudoautosomal) skeletal dysplasia with mesomelic short stature and bilateral Madelung deformity, due to dyschondrosteosis of the distal radius. It results from the loss of one copy of the Short Stature Homeobox Gene (SHOX) from the tip of the short arm of the X or y chromosome. SHOX molecular testing enabled us to evaluate the histopathology of the radial physis in LWS patients with a documented SHOX abnormality. A widespread disorganisation of physeal anatomy was revealed with disruption of the normal parallel columnar arrangement of chondrocytes. Tandem stacking of maturing chondrocytes within columns was replaced by a side-by-side arrangement. The presence of hypertrophic osteoid with micro-enchondromata in the radial metaphysis suggests abnormal endochondral ossification. The Vickers' ligament was confirmed to blend with the triangular fibrocartilage complex (TFCC). This histopathological study demonstrates that the zone of dyschondrosteosis in LWS is characterised by marked disruption of normal physeal chondrocyte processes and that a generalised physeal abnormality is present.- - - - - - - - - - ranking = 1keywords = enchondroma (Clic here for more details about this article) |
2/33. Both Trevor and Ollier disease limited to one upper extremity.A case is presented of a young boy in whom features of Trevor's dysplasia epiphysealis hemimelica and Ollier's enchondromatosis coexisted in a single extremity, the right upper. As Trevor disease consists of osteochondromas of epiphyses and their equivalents, such as carpal and tarsal bones, it is of interest that exostosis-like centers of the neck of radius and perhaps the proximal third metacarpal are present as well. Advanced maturation of selected centers was most marked at the right scaphoid. The child shows alignment abnormalities as a consequence of the varied lesions, including a varus of the right wrist. The coexistence of these varied osteochondromatous abnormalities in one extremity suggests a relationship in their etiologies.- - - - - - - - - - ranking = 15.102132511057keywords = enchondromatosis, enchondroma (Clic here for more details about this article) |
3/33. Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.Two brothers affected by enchondromatosis with marked involvement of the spine including platyspondyly were followed for 12 years. Both brothers were of short stature and normal intelligence. Vertebral involvement in multiple enchondromatosis is very rare. To our knowledge, marked generalized platyspondyly has not been described in the literature as part of this condition. At present, this form cannot be placed within any previously described category. A new term--spondyloenchondrodysplasia--is proposed for this condition which may either be a subform of multiple enchondromatosis or an entirely different and distinct entity.- - - - - - - - - - ranking = 45.306397533171keywords = enchondromatosis, enchondroma (Clic here for more details about this article) |
4/33. Spondyloenchondrodysplasia: clinical variability in three cases.Spondyloenchondrodysplasia is a very rare skeletal dysplasia in which multiple enchondromata exist in the metaphyses of the long bones with platyspondyly. We present three patients (two of them are sibs) with spondyloenchondrodysplasia. The first patient was a 10-year-old boy, who had short stature and enchondromatous-like lesions in the metaphyses of the long bones and platyspondyly on radiography. His older sister (21-years old) had received growth hormone therapy 12 years earlier due to short stature, and her radiological findings were similar but milder than her brother. Both the sibs had normal intelligence and no calcification of the basal ganglia. The third patient was a 6-year-old boy who had short stature, mental retardation, enchondromatous-like lesions in the metaphyses of the long bones and platyspondyly. His cranial BT showed calcification of basal ganglia. The findings of the two sibs in the first family were compatible with spondyloenchondrodysplasia. The difference in clinical severity between the siblings shows the variability within the family. The third case with mental retardation and the presence of intracranial calcifications is compatible with spondyloenchondrodysplasia with basal ganglia calcification. In conclusion, we suggest that family screening and cranial imaging for the presence of intracranial calcifications should be considered in every patient with the diagnosis of spondyloenchondrodysplasia.- - - - - - - - - - ranking = 3keywords = enchondroma (Clic here for more details about this article) |
5/33. Autosomal dominant inheritance of spondyloenchondrodysplasia.Spondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosomal recessive condition. A mother and son are reported with typical features of spondyloenchondrodysplasia. Their similar radiographic and MRI findings are presented. The radiologic appearance of the spine changed over time, illustrating the evolving phenotype of this condition. Transmission from mother to son suggests that dominant pattern of inheritance is possible. A classification of the enchondromatoses is discussed.- - - - - - - - - - ranking = 16.102132511057keywords = enchondromatosis, enchondroma (Clic here for more details about this article) |
6/33. Skeletal diseases associated with angiomatosis.Basically, there are two conditions in which angiomatosis is associated with underlying skeletal disease. The first is Maffucci's syndrome in which angiomatosis is associated with multiple enchondromatosis. Two patients with this disease are presented and its clinical and radiologic features are reviewed. The second is "congenital angiectatic hypertrophy" in which angiomatosis is associated with localized hypertrophy of underlying bones, soft tissues and occasionally internal vercera. Four patients with this condition are presented, illustrating the subtypes of closely related diseases within a broad spectrum.- - - - - - - - - - ranking = 15.102132511057keywords = enchondromatosis, enchondroma (Clic here for more details about this article) |
7/33. enchondromatosis and hemangioma (Maffucci's syndrome) with orbital involvement.Maffucci's syndrome is a rare, congenital disease of unknown cause characterized by the development of multiple enchondromas and soft-tissue hemangiomas. We treated a 34-year-old man with Maffucci's syndrome, bilateral proptosis secondary to multiple intraorbital hemangiomas, corneal exposure secondary to a left facial nerve palsy, and multiple intra-abdominal tumors. The skeletal manifestations were not clinically apparent and were only discovered after a careful radiologic survey. Simultaneous bilateral orbital cavernous hemangiomas should alert the physician to the possibility of Maffucci's syndrome.- - - - - - - - - - ranking = 1keywords = enchondroma (Clic here for more details about this article) |
8/33. Ovarian fibrosarcoma associated with Maffucci's syndrome.Maffucci's syndrome, a congenital condition of generalized mesodermal dysplasia, is most often associated with multiple enchondromas and soft tissue hemangiomas or lymphangiomas. This case report describes the development of an unusual ovarian fibrosarcoma and subsequent ovarian adenofibroma in a young woman with the syndrome. The importance of aggressive surveillance in this and similar orthopedic syndromes is stressed.- - - - - - - - - - ranking = 1keywords = enchondroma (Clic here for more details about this article) |
9/33. Neonatal radiological aspect of enchondromatosis (Ollier's disease).A neonatal case of enchondromatosis is reported on, presenting with typical clinical features and radiological changes at birth. At two years of age, the enchondromata had considerably enlarged, and diagnosis was established by biopsy. The radiological aspect of enchondromatosis in the neonate is described and compared to its development in early childhood.- - - - - - - - - - ranking = 91.612795066342keywords = enchondromatosis, enchondroma (Clic here for more details about this article) |
10/33. Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions.We report on 6 patients with short stature and progressive enchondromatous-like changes of the vertebral bodies and the metaphyses of the long bones. Parental consanguinity was observed in 5 of 6 cases, supporting autosomal recessive inheritance. In spite of the similarity in radiographic changes and body proportions, genetic heterogeneity is suggested by the presence of CNS calcifications in 3 patients. Two of the latter had progressive quadriparesis. We tentatively classified these patients into 2 provisional types. An iliac crest biopsy in one of the patients with "type I" disease did not demonstrate enchondromatosis. light and transmission electron microscopic studies demonstrated large cisterns and small inclusion bodies containing a flocculent material within the rough endoplasmic reticulum of the chondrocytes. Based on the histological and radiographic findings, we propose to classify these conditions among the spondylometaphyseal skeletal dysplasias.- - - - - - - - - - ranking = 16.102132511057keywords = enchondromatosis, enchondroma (Clic here for more details about this article) |
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