Common normal variants of pediatric vertebral development that mimic fractures: a pictorial review from a national longitudinal bone health study.

Children with glucocorticoid-treated illnesses are at risk for osteoporotic vertebral fractures, and growing awareness of this has led to increased monitoring for these fractures. However scant literature describes developmental changes in vertebral morphology that can mimic fractures. The goal of this paper is to aid in distinguishing between normal variants and fractures. We illustrate differences using lateral spine radiographs obtained annually from children recruited to the Canada-wide STeroid-Associated Osteoporosis in the Pediatric Population (STOPP) observational study, in which 400 children with glucocorticoid-treated leukemia, rheumatic disorders, and nephrotic syndrome were enrolled near glucocorticoid initiation and followed prospectively for 6 years. Normal variants mimicking fractures exist in all regions of the spine and fall into two groups. The first group comprises variants mimicking pathological vertebral height loss, including not-yet-ossified vertebral apophyses superiorly and inferiorly, which can lead to a vertebral shape easily over-interpreted as anterior wedge fracture, physiological beaking, or spondylolisthesis associated with shortened posterior vertebral height. The second group includes variants mimicking other radiologic signs of fractures: anterior vertebral artery groove resembling an anterior buckle fracture, Cupid's bow balloon disk morphology, Schmorl nodes mimicking concave endplate fractures, and parallax artifact resembling endplate interruption or biconcavity. If an unexpected vertebral body contour is detected, careful attention to its location, detailed morphology, and (if available) serial changes over time may clarify whether it is a fracture requiring change in management or simply a normal variant. Awareness of the variants described in this paper can improve accuracy in the diagnosis of pediatric vertebral fractures.

Variability of physicians' thresholds for neuroimaging in children with recurrent headache.

BACKGROUND: We sought to determine the extent to which physicians agree about the appropriate decision threshold for recommending magnetic resonance imaging in a clinical practice guideline for children with recurrent headache. METHODS: We surveyed attending physicians in Canada practicing in community pediatrics, child neurology, pediatric radiology, and pediatric neurosurgery. For children in each of six risk categories, physicians were asked to determine whether they would recommend for or against routine magnetic resonance imaging of the brain in a clinical practice guideline for children with recurrent headache. RESULTS: Completed surveys were returned by 114 physicians. The proportion recommending routine neuroimaging for each risk group was 100% (50% risk), 99% (10% risk), 93% (4% risk), 54% (1% risk), 25% (0.4% risk), 4% (0.01% risk). Community pediatricians, physicians in practice >15 years, and physicians who believed they ordered neuroimaging less often than peers were less likely to recommend neuroimaging for the 1% risk group (all p < 0.05). CONCLUSIONS: There is no consensus among pediatric specialists regarding the appropriate decision threshold for neuroimaging in a clinical practice guideline for children with recurrent headache. Because of the impact that individual threshold preferences may have on guidelines, these findings support the need for careful composition of guideline committees and consideration of the role of patient and family preferences. Our findings also support the need for transparency in guidelines regarding how evidence was translated into recommendations and how conflicts were resolved.

The developmental spectrum of proximal radioulnar synostosis.

OBJECTIVE: Proximal radioulnar synostosis is a rare upper limb malformation. The elbow is first identifiable at 35 days (after conception), at which stage the cartilaginous anlagen of the humerus, radius and ulna are continuous. Subsequently, longitudinal segmentation produces separation of the distal radius and ulna. However, temporarily, the proximal ends are united and continue to share a common perichondrium. We investigated the hypothesis that posterior congenital dislocation of the radial head and proximal radioulnar fusion are different clinical manifestations of the same primary developmental abnormality. MATERIALS AND METHODS: Records were searched for "proximal radioulnar fusion/posterior radial head dislocation" in patients followed at the local Children's Hospital and Rehabilitation Centre for Children. Relevant radiographic, demographic and clinical data were recorded. Ethics approval was obtained through the University Research Ethics Board. RESULTS: In total, 28 patients met the inclusion criteria. The majority of patients (16) had bilateral involvement; eight with posterior dislocation of the radial head only; five had posterior radial head dislocation with radioulnar fusion and two had radioulnar fusion without dislocation. One patient had bilateral proximal radioulnar fusion and posterior dislocation of the left radial head. Nine patients had only left-sided involvement, and three had only right-sided involvement.The degree of proximal fusion varied, with some patients showing 'complete' proximal fusion and others showing fusion that occurred slightly distal to the radial head: 'partially separated.' Associated disorders in our cohort included Poland syndrome (two patients), Cornelia de Lange syndrome, chromosome anomalies (including tetrasomy X) and Cenani Lenz syndactyly. CONCLUSION: The suggestion of a developmental relationship between posterior dislocation of the radial head and proximal radioulnar fusion is supported by the fact that both anomalies can occur in the same patient. Furthermore, both anomalies can be seen in different patients with the same genetic diagnosis, further supporting the notion that these defects are developmentally related. Posterior dislocation of the radial head and radioulnar fusion are considered to be related primary developmental anomalies of radioulnar differentiation/segmentation. We speculate that the eventual specific defect of this spectrum is influenced by very subtle differences in developmental timing. This is in contrast to patients with transverse forearm defects who can also display radial head dislocation but in an anterior or lateral direction. This direction of dislocation is seen when an abnormal force is exerted on a normally formed radial head later in development or postnatally in disorders such as multiple osteochondromatosis and various mesomelic dysplasias, or as a result of trauma.

Clinical decision rules in radiology.

Clinical decision rules to guide physicians in the appropriate use of diagnostic imaging studies need to be developed, in part, to control the overutilization of imaging studies. These rules need to be evidence based. Randomized control trials can be designed to assess the value of imaging studies and interventional procedures at levels five and six, patient outcome and societal efficacies, in Fryback and Thornbury's hierarchical model of efficacy. Results of these trials can be used to develop clinical decision rules. However, the efficacy of most diagnostic imaging studies can be assessed better at levels three and four, diagnostic thinking and therapeutic efficacies. Studies can be designed to determine clinical situations in which imaging studies will be of no value or to determine clinical criteria for the use of imaging studies. Systematic reviews of the literature and other techniques of analysis of evidence, such as decision trees, also can be used to develop evidence-based clinical decision rules for the use of diagnostic imaging procedures.

Fibular aplasia with ectrodactyly.

Fibular aplasia with split hand/foot or other defects of the central axis is a rare disorder that shares several characteristics with the better known tibial aplasia-ectrodactyly syndrome. They appear to be inherited in an autosomal dominant fashion. In both, however, the phenotype is markedly variable, penetrance is reduced, and apparently sporadic cases are relatively frequent. We report a new case of this disorder and review the clinical and demographic findings in 47 others identified from the literature or other sources. A key observation was that the sex ratio is biased toward males, especially in apparently sporadic cases. This male bias is largely explained by a lower penetrance rate in women. Both affected males and females had affected children, but the risk to offspring was higher when the mother carried the gene, in keeping with a mixed model for genetic susceptibility, i.e., the penetrance of the major predisposing gene is acting against a multifactorially determined level of liability. Given the high degree of nonpenetrance and very variable expressivity, counseling with respect to recurrence risk is problematic and will likely remain so, even when the major predisposing gene is identified.

Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome.

We report a 5 9/12-year-old male with Cenani-Lenz syndactyly (CLS). He presented with three malformed digits on each hand and bilateral 2,3 partial cutaneous toe syndactyly. The expression of this presumed autosomal recessive disorder is variable and has been confused with split hand foot malformation (SHFM). Not all CLS patients show the typical 'spoon hand' configuration originally described. Affected CLS patients show a disorganized appearance of the phalanges with some degree of syndactyly/oligodactyly, in addition to metacarpal and carpal fusions. Radioulnar synostosis may be present. Cases lacking radioulnar synostosis may show proximal dislocation of the radial heads. The distal limb anomalies seen in our patient resemble other reported CLS patients. Radiographic evaluation showed a disorganized appearance of the phalanges, a 'kissing delta phalanx' of one proximal phalanx, metacarpal fusions, carpal coalitions and posterior subluxation of the radial heads. Clinical examination revealed features suggestive of Kabuki syndrome including large, prominent ears, sparse, medially flared and arched eyebrows, wide palpebral fissures, long eyelashes, and oligodontia with flat head 'screwdriver-shaped' incisors, in addition to persistent finger and thumb-tip pads. The faces of CLS patients are rarely shown or described. However, some patients in published reports have large, prominent ears. A recent report suggested midfacial dysmorphism in two patients with CLS (). Although the findings of CLS with features of Kabuki syndrome in our patient may be coincidental, the faces of CLS patients need to be carefully evaluated and described to determine if there is a distinctive accompanying facial phenotype.

Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome.

ABSTRACT: Ritscher-Schinzel Syndrome (RSS) is a clinically variable, autosomal recessive disorder, involving cardiac, cerebellar and craniofacial abnormalities. Numerous reports describe hand changes in RSS patients; however, a detailed characterization of the hands has not previously been performed. OBJECTIVE: The purpose of this study was to identify whether specific radiographic hand changes were characteristic of RSS and could serve as a diagnostic tool. MATERIALS AND METHODS: We performed a detailed radiographic hand characterization of 8 RSS patients. The patient population consisted of 5 males and 3 females from ages one month to 26 years, 7 months. The hands were characterized using metacarpophalangeal pattern (MCPP) profiles, carpal height and bone age analyses and assessment of bone morphology. RESULTS: There was generalized brachydactyly with the second ray being the most severely affected. There was significant shortening of the first metacarpal and the fifth distal phalanx. The MCPP profile generated showed a consistent wavy pattern with average Z-scores ranging from -0.15 (4(th) proximal phalanx) to -2.13 (1(st) metacarpal) and 0.53 (4(th) middle phalanx) to -1.73 (2(nd) proximal phalanx) for the left and right hands, respectively. Six of eight patients showed a decreased carpal height. Bone age was within normal limits for all patients. Our study population showed consistent radiographic changes including: overtubulation of the bones (especially metacarpals 2-4), prominent tufts of the distal phalanges and a hypoplastic fifth distal phalanx. CONCLUSION: The hand findings identified in this study can provide helpful diagnostic tools to clinicians when the diagnosis of RSS is being considered.

Assessing the recommendations for the use of diagnostic imaging in clinical practice guidelines.

Accuracy is the primary evidence assessed when diagnostic imaging is evaluated in clinical practice guidelines. However, recommendations to not use diagnostic imaging are usually based not on its accuracy but on its lack of utility, that is its low Level 4 efficacy. If there is good clinical evidence that diagnostic imaging will not be useful in a clinical situation, the recommendation not to use it should be strong even if the evidence for its accuracy is of poor quality.

Electronic decision support for diagnostic imaging in a primary care setting.

METHODS: Clinical guideline adherence for diagnostic imaging (DI) and acceptance of electronic decision support in a rural community family practice clinic was assessed over 36 weeks. Physicians wrote 904 DI orders, 58% of which were addressed by the Canadian Association of Radiologists guidelines. RESULTS: Of those orders with guidelines, 76% were ordered correctly; 24% were inappropriate or unnecessary resulting in a prompt from clinical decision support. Physicians followed suggestions from decision support to improve their DI order on 25% of the initially inappropriate orders. The use of decision support was not mandatory, and there were significant variations in use rate. Initially, 40% reported decision support disruptive in their work flow, which dropped to 16% as physicians gained experience with the software. CONCLUSIONS: Physicians supported the concept of clinical decision support but were reluctant to change clinical habits to incorporate decision support into routine work flow.

The effect of incorporating guidelines into a computerized order entry system for diagnostic imaging.

PURPOSE: The objectives of this collaborative evaluation of the Manitoba Demonstration Project in Demand-Side Control for Diagnostic Imaging were to determine the impacts of both the computerized order entry and decision support components of the intervention, identify barriers to implementation, and provide insight into quantitative findings. METHODS: Mixed methodology was used. A stakeholder committee guided project implementation and evaluation and assisted in interpreting findings. Orders placed through the software (July 2006 to August 2007) were analyzed in conjunction with qualitative data from semistructured interviews, focus groups, consultations, and observational methods. Data were collected before implementation, after the introduction of the computerized ordering system, after the introduction of decision support prompts, and at project completion. Analysis was conducted simultaneously with data collection. RESULTS: Although the process change of computerized provider order entry was well accepted, there was low acceptance of the practice change of decision support. Of 8,757 orders placed after guidelines were activated, 1,678 (19.2%) had relevant guidelines and 957 (10.9%) were inappropriate according to the guidelines. In only 19 (2%) of these cases did the physician follow the advice given. Contributing factors included setting, implementation of only a subsection of the Canadian Association of Radiologists guidelines, implementation issues, physician perspectives on usefulness of decision support, the timing of advice, a lack of integration with existing patient information systems, and software limitations. Setting predicted satisfaction with ordering time. The potential for computerized provider order entry to decrease useful information accompanying orders was identified. CONCLUSIONS: The results of this study highlight the importance of ensuring both appropriate timing of decision support and integration with patient information systems. Implementation evaluation, as well as impact evaluation, is needed to assess new system adoption; early engagement of users can support this process. Further research is needed to determine the actual extent of inappropriate ordering.