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Results for “Bone Diseases, Developmental”

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At least 181 records · Page 10Linked to original sources
PubMed1978

Perinatal post-mortem radiography--experience with 2500 cases.

A review of 2500 routine post-mortem radiographic examinations of perinates is presented. It is concluded that the procedure is of value in the detection of abnormalities which may have contributed to the death of the perinate and which may have escaped detection at autopsy. The use of contrast agents may assist in the evaluation of congenital abnormalities, especially of the cardiovascular system. Post-mortem radiographic examination may be especially helpful in the evaluation of perinates for whom permission for autopsy is denied. Post-mortem radiography may assist in the gathering of statistical data and may provide useful material for teaching and research.

Autopsy↗
PubMed2000

Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H).

BACKGROUND: Odontoid dysplasia is recognized as a major component of the constellation of dysostosis multiplex lesions associated with Hurler's syndrome (MPS 1H). Because of this abnormality, there is an increased risk of atlantoaxial subluxation with potential cervical spinal cord injury. A significant alteration of the natural history of the disease with respect to the visceral, cardiac, and skeletal systems has resulted in an increased life span for MPS 1H patients associated with engraftment from normal donors. OBJECTIVE: The purpose of this study was to evaluate the longitudinal changes of odontoid dysplasia in MPS 1H following engraftment from bone-marrow transplantation (BMT). MATERIALS AND METHODS: A retrospective review of sequential plain film or cervical spine MR was performed in patients with MPS 1H. Odontoid morphology was graded as aplasia, severe dysplasia, moderate dysplasia, mild dysplasia, or normal. Odontoid morphology was plotted against the time interval. Fully engrafted, nontransplanted, and partially engrafted patients had careful imaging evaluation of the odontoid process. RESULTS: Ten patients were studied with a mean interval follow-up of 8.7 years post-BMT. Seven patients were totally engrafted. Two patients were nontransplanted, and one patient had only partial engraftment (20% enzyme activity). All totally engrafted patients had a progressive improvement in the grade of odontoid dysplasia following BMT. Patients with partial engraftment or without transplantation demonstrated static or increasing odontoid dysplasia. MR imaging showed abnormal dural soft-tissue masses at the level of C2 in all patients. Reduction in the grade of odontoid dysplasia was not associated with significant change in the appearance of the upper cervical soft-tissue masses. CONCLUSION: For the first time, this report documents that patients with MPS 1H show a decrease in the degree of odontoid dysplasia on imaging after successful engraftment following BMT.

Bone Diseases, Developmental↗
PubMedDate not supplied

Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation.

Bone marrow transplantation (BMT) is effective in ameliorating many of the clinical manifestations of Hurler syndrome. However, long-term data on the natural history of the musculoskeletal disorders of Hurler syndrome after BMT are limited. The authors report the orthopaedic outcomes in seven patients with Hurler syndrome who were successfully engrafted between 1990 and 1999, and have been followed for a mean of 7.6 years since transplantation. Medical records, clinical examinations, and imaging studies were reviewed to assess the development and management of hip dysplasia, genu valgum, spine abnormalities, hand abnormalities, and joint range of motion. BMT does not appear to alter the natural history of the musculoskeletal disorders in Hurler syndrome, although there may be a beneficial effect on upper extremity joint mobility.

Bone Diseases, Developmental↗
PubMed1980

Congenital and developmental anomalies of the shoulder girdle.

An understanding of congenital and developmental anomalies of the shoulder girdle is facilitated by a knowledge of embryology, physeal appearance and closure, and phylogenetic changes. Scapular, clavicular, and proximal humeral anomalies are classified and discussed with reference to diagnosis and management. Finally anomalies of the shoulder girdle musculature are delineated.

Acromioclavicular Joint↗
PubMed2006

ATF4 mediation of NF1 functions in osteoblast reveals a nutritional basis for congenital skeletal dysplasiae.

The transcription factor ATF4 enhances bone formation by favoring amino acid import and collagen synthesis in osteoblasts, a function requiring its phosphorylation by RSK2, the kinase inactivated in Coffin-Lowry Syndrome. Here, we show that in contrast, RSK2 activity, ATF4-dependent collagen synthesis, and bone formation are increased in mice lacking neurofibromin in osteoblasts (Nf1(ob)(-/-) mice). Independently of RSK2, ATF4 phosphorylation by PKA is enhanced in Nf1(ob)(-/-) mice, thereby increasing Rankl expression, osteoclast differentiation, and bone resorption. In agreement with ATF4 function in amino acid transport, a low-protein diet decreased bone protein synthesis and normalized bone formation and bone mass in Nf1(ob)(-/-) mice without affecting other organ weight, while a high-protein diet overcame Atf4(-/-) and Rsk2(-/-) mice developmental defects, perinatal lethality, and low bone mass. By showing that ATF4-dependent skeletal dysplasiae are treatable by dietary manipulations, this study reveals a molecular connection between nutrition and skeletal development.

Activating Transcription Factor 4↗
PubMed2006

The results of limb lengthening by callus distraction using an extending intramedullary nail (Fitbone) in non-traumatic disorders.

Limb lengthening by callus distraction and external fixation has a high rate of complications. We describe our experience using an intramedullary nail (Fitbone) which contains a motorised and programmable sliding mechanism for limb lengthening and bone transport. Between 2001 and 2004 we lengthened 13 femora and 11 tibiae in ten patients (seven men and three women) with a mean age of 32 years (21 to 47) using this nail. The indications for operation were short stature in six patients and developmental or acquired disorders in the rest. The mean lengthening achieved was 40 mm (27 to 60). The mean length of stay in hospital was seven days (5 to 9). The mean healing index was 35 days/cm (18.8 to 70.9). There were no cases of implant-related infection or malunion.

Adult↗
PubMed2004

Contour irregularities of the distal femur caused by developmental, traumatic, and benign cortically-based neoplastic conditions: radiographic and MRI correlation.

This review illustrates the radiographic and magnetic resonance imaging (MRI) appearances of a variety of entities that result in surface contour abnormalities of the distal femur. Such abnormalities may result from developmental variants expressed in the growing skeleton, from trauma, or from cortically-based tumours. As the number of MRI examinations of the knee performed annually to exclude internal derangement increases, the frequency with which these variants and pathological entities are encountered will likewise increase. In most cases, the location of the lesion, as well as its specific imaging characteristics, will allow an accurate diagnosis.

Bone Diseases, Developmental↗