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At least 19 recordsLinked to original sources

Musculoskeletal abnormalities and ichthyosis.

Musculoskeletal abnormalities and the associated findings of ichthyosis were seen in three patients between 1972 and 1975. Review of the literature revealed that musculoskeletal abnormalities had previously been recognized in patients with ichthyosis, but not emphasized because of the more frequent and profound neurological abnormalities. Interestingly, our patients had no neurological abnormalities. Ichthyotics should have thorough musculoskeletal as well as neurological and dermatological examinations.

Adolescent↗

A family with multiple musculoskeletal abnormalities.

A family with multiple musculoskeletal abnormalities is reported. The disorder is characterised by platyspondyly, abnormality of the upper femoral epiphyses, and the development of precocious osteoarthritis. It is proposed that this family represents an example of autosomal dominantly inherited spondyloepiphyseal dysplasia tarda (SED tarda).

Adolescent↗

Congenital ocular fibrosis with musculoskeletal abnormality: a new association.

Two siblings demonstrated an association of congenital ocular fibrosis (COF) syndrome with musculoskeletal abnormalities consisting of generalized muscle wasting, scoliosis, pigeon-chest deformity, bilateral fusion of the ribs in triplets, prominent coccyx, and sacral dimple. While most of the ocular and systemic "associations" hitherto described in the literature might have been coincidental, the coexistence of a generalized musculloskeletal disease with the COF syndrome raises the possibility that the ocular condition may be part of a more widespread disease process affecting the skeletal muscles.

Bone and Bones↗

Comparison between fast spin-echo and conventional spin-echo imaging of normal and abnormal musculoskeletal structures in children and young adults.

RATIONALE AND OBJECTIVES: The differences in imaging characteristics between conventional and fast spin-echo studies of the skeletons of children and young adults were evaluated. METHODS: Concurrent conventional and fast spin-echo studies of 23 patients were compared by measuring signal intensity, contrast, and, subjectively, conspicuity of normal and abnormal musculoskeletal structures. RESULTS: Fast proton-density-weighted images had lower signal-to-noise ratios of muscle, fat, and physeal, epiphyseal, and articular cartilage. Using more than three echoes for proton-density images resulted in blurring and decreased lesion conspicuity. On fast T2-weighted images, there was greater conspicuity of normal cortex, ligaments, and muscle; but less contrast between fat and water because of a higher signal-to-noise ratio of fat. When both sequences were obtained with similar image quality, fast spin-echo was 40% faster. CONCLUSION: Fast spin-echo studies allows faster imaging, but can have blurring on proton-density-weighted images and decreased fat-water contrast on T2-weighted images.

Adipose Tissue↗

Musculoskeletal abnormalities in chronic headache: a controlled comparison of headache diagnostic groups.

The presence of postural, myofascial, and mechanical abnormalities in patients with migraine, tension-type headache, or both headache diagnoses was compared to a headache-free control sample. Twenty-four control subjects were obtained from a convenience sampling and each was matched by age and sex to three patients with headache (one with migraine [with or without aura], one with tension-type headache, and one with diagnoses of both migraine and tension-type headache [combined diagnosis]) who had been previously assessed by a physical therapist at a headache clinic. Physical therapy assessment findings were compared among the four groups. There was a significant difference in the presence of postural abnormalities between the controls and the patients, with posture abnormalities more likely to be present in those with headache. The patients were also significantly more likely to have active trigger points and trigger points in the neck than were the control subjects. There were no significant group differences identified in the mechanical measures, nor were there any significant differences among the three headache categories. Determination of the clinical significance of these musculoskeletal abnormalities in patients with headache will require the development and testing of further standardized assessments as well as physical therapy treatment programs.

Adult↗

Posttraumatic sports-related musculoskeletal abnormalities: prevalence in a normal population.

The prevalence of posttraumatic musculoskeletal (MS) abnormalities attributable to athletics within general populations has not been identified. In this study, comprehensive athletic histories and MS examinations were performed on 127 medical students, aged 23 to 32. A total of 158 separate congenital, developmental, and acquired MS abnormalities were detected among 93 subjects (73.2%). Forty-seven subjects (37.0%) demonstrated 64 separate sports-related abnormalities, including decreased joint range in motion (ROM), articular laxity, synovitis, tendinitis, and bursitis. Participants in contact sports had the highest prevalence, runners were intermediate, and participants in noncontact sports had the lowest prevalence of posttraumatic MS abnormalities. Ninety subjects (70.8%) had previous history of sports-related injuries. Participation in specific sports correlated with predictable injury patterns and with their sequelae as noted on physical examination. The data presented suggest a high incidence of sports injury in general populations, and demonstrate that posttraumatic MS abnormalities attributable to athletics are highly prevalent in otherwise normal young adults.

Adult↗

Musculoskeletal abnormalities in velocardiofacial syndrome.

This is the first case report detailing the musculoskeletal pathology and treatment ramifications associated with velocardiofacial syndrome. Orthopaedic manifestations include scoliosis, clubfoot, Sprengel's deformity, generalized ligamentous laxity that is especially problematic about the knee, and epiphyseal dysplasia that is most notable in the lateral humeral condyle, lateral femoral condyle, and femoral head.

Abnormalities, Multiple↗

Gradient-echo perfusion imaging of musculoskeletal abnormalities with contrast-enhanced two-dimensional fat-saturation FLASH.

The objective of this study was to evaluate the utility of MR perfusion imaging of various musculoskeletal lesions with a contrast-enhanced two-dimensional fat saturation fast low angle shot (FLASH) sequence and to assess the potential of this technique for distinguishing malignant from benign conditions. Thirty-six musculoskeletal lesions were studied at 1.5 T. The signal intensity of the lesions, adjacent artery, muscle, bone marrow, and fat were plotted against time. The time to peak enhancement, time to maximum signal intensity, percent enhancement, rate of peak enhancement, and rate of enhancement parameters were calculated. Because of a significant overlap between malignant and benign conditions, accuracy rates were lower than reported previously. The best parameter based on these values was the rate of peak enhancement (sensitivity, 84.6%; specificity, 65.2-66.6%; positive predictive value, 57.8-68.7%). Fat saturation gradient-echo MR perfusion imaging allows for a rapid assessment of the vascularity of musculoskeletal pathology; however, a significant overlap persists between malignant neoplasms and several benign conditions.

Adipose Tissue↗

Musculoskeletal abnormalities in a patient with juvenile hypothyroidism.

Abnormalities in growth and development are the most striking clinical features of juvenile acquired hypothyroidism. Therefore, physicians should consider the diagnosis of hypothyroidism in any child with musculoskeletal growth dysfunction. Drs Kilpatrick and Fincher describe a case demonstrating the severe and potentially irreversible effects of prolonged, untreated hypothyroidism.

Adolescent↗

Musculoskeletal abnormalities of the forearm in patients with juvenile idiopathic arthritis relate mainly to bone geometry.

OBJECTIVE: Alterations of the skeletal system, including reduced bone mineral density, increased frequency of fractures, and changes in markers of bone metabolism, have been described in juvenile idiopathic arthritis (JIA), but measurement of volumetric bone density and bone geometry is not possible with the techniques used in most studies. This study was undertaken to obtain a more detailed understanding of the musculoskeletal system in JIA by analyzing bone density, bone geometry, and muscle force as the most important factor in bone development. METHODS: The technique of peripheral quantitative computed tomography was used in a cross-sectional study of 57 children with the oligoarticular, polyarticular, or systemic form of JIA. Density of trabecular and cortical bone as well as geometric parameters of bone and muscle were measured at the forearm. RESULTS: Children in all subgroups had significantly reduced muscle cross-sectional area, which was strongly correlated with muscle force and abnormalities in geometric parameters of bone, including a significant reduction in cortical thickness. Trabecular density was affected only in the polyarticular JIA group, and cortical density was normal in all subgroups. CONCLUSION: Our results suggest that an important problem in JIA is the lack of muscle mass and force, together with abnormal bone geometry. The thinned bony cortices might predispose to fractures even though cortical bone density itself is normal. These results might have implications with regard to therapeutic approaches to preserve musculoskeletal integrity in JIA.

Adolescent↗

Pigmentation and musculoskeletal abnormalities in an aged state hospital population.

In a State hospital population, 686 patients (mean age, 65 years) were examined for patterned pigmentation on unexposed areas of the body. Of these patients, 285 (41.5 percent) met the criteria for pigmentation. There were no sex or age differences. Psychosis had been diagnosed in 96 percent of the pigmented group. All of the 239 patients examined orthopedically had vertebral malalignment greater than 15 degrees and often had other bony deformities. Nearly all of the pigmented group displayed dyskinetic activity. A possible mechanism for the production of the pigmentation-psychosis-skeletal deformity triad could be an alteration in the concentration of available melatonin. Continued research along these lines may lead to an effective means of pharmacologic treatment as well as better psychologic and physical care.

Adult↗

The orthopaedic manifestations of prune-belly (Eagle-Barrett) syndrome.

Forty children were managed for prune-belly syndrome between 1979 and 1989, and twenty-five of them had musculoskeletal abnormalities. The musculoskeletal abnormalities were primary in twenty-two children, secondary to renal osteodystrophy in one, and both primary and secondary to renal osteodystrophy in two. Thirteen children had marked abnormality of the hip, and congenital dislocation was typically resistant to conventional treatment. Scoliosis was seen in seven patients. Pectus excavatum (a chest-wall deformity) was seen in eleven patients, including five of the six who had an idiopathic-like curve. Although prune-belly syndrome is uncommon, the diagnosis necessitates a thorough orthopaedic evaluation because of the high prevalence of associated musculoskeletal abnormalities.

Child↗

Further delineation of the behavioral and neurologic features in Costello syndrome.

To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10 children with Costello syndrome. All patients showed significant postnatal growth retardation and severe feeding difficulties leading to failure to thrive from early infancy. All required tube feeding and some needed high-calorie formulas for variable periods. Developmental quotients/IQs in seven children were 50 or less, and three were in the mildly retarded range. Five had seizures. Remarkable manifestations not previously reported were the characteristic behavior in infancy. Although happy and sociable personality was always emphasized in the genetic literature, all children showed significant irritability, including hypersensitivity to sound and tactile stimuli, sleep disturbance, and excess shyness with strangers in infancy. Those symptoms usually disappeared around age 2-4 years. Other clinical signs included cardiac abnormalities (8), musculoskeletal abnormalities (10), ophthalmological manifestations (5), increased urinary vanillymandelic acid (VMA) and homovanillic acid (HVA) (3), rhabdomyosarcoma (1), laryngomalacia (1), and cryptorchidism (1). Only three girls had papillomata. Family histories were negative for Costello syndrome. In conclusion, we confirm the wide spectrum of mental function in patients with Costello syndrome, which ranges from severe to mild. During infancy Costello syndrome showed remarkable irritability with severe feeding problems, which attributes significant difficulties to the parents of affected children.

Abnormalities, Multiple↗

Holt-Oram syndrome revisited. Two patients in the same family.

Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculoskeletal abnormalities and their association with the cardiac morphologic defects. Both patients in this study had associated eosinophilia, which has not been reported in the literature.

Abnormalities, Multiple↗