Assessment of Patellar Morphology in Trochlear Dysplasia on Computed Tomography Scans.

OBJECTIVE: To evaluate the patellar morphology of trochlear dysplasia and normal knees in different genders and in different severities of trochlear dysplasia on CT scans. METHODS: A total of 75 patients with trochlear dysplasia (110 knees) treated at the Third Hospital of Hebei Medical University from December 2013 to December 2018 were included in an experimental group, and an age-matched and sex-matched cohort of 46 patients with normal trochlear shape (61 knees) were randomly selected into a control group. The experimental group was divided into a female experimental group (Group FE, 47 patients, 72 knees) and a male experimental group (Group ME, 28 patients, 38 knees); the control group was divided into a female control group (Group FC, 31 knees, 24 female patients) and a male control group (Group MC, 30 knees, 22 male patients). Furthermore, according to the severity of trochlear dysplasia, Group FE was divided into a female low-grade dysplasia group (Group FL, 20 knees) and a female high-grade dysplasia group (Group FH, 52 knees); Group ME was divided into a male low-grade dysplasia group (Group ML, 16 knees) and a male high-grade dysplasia group (Group MH, 22 knees). All participants had undergone CT scans in the supine position; the patellar width and thickness, the lateral patellar facet angle, the Wiberg angle, and the Wiberg index were measured and compared. RESULTS: In trochlear dysplasia knees, the mean patellar width and thickness and the lateral patellar facet angle were significantly smaller; the mean Wiberg index was significantly larger than in normal knees, regardless of gender (P < 0.05); and there was no statistically significant difference in the mean Wiberg angle (P > 0.05). In the female groups, the mean patellar width and thickness and the Wiberg angle were significantly smaller; the mean lateral patellar facet angle was significantly larger than those in the male groups (P < 0.05); and there was no significant difference in the mean Wiberg index (P > 0.05). In the low-grade dysplasia group, the mean Wiberg index was smaller than that in the high-grade dysplasia group (P < 0.05), regardless of gender; however, there was no significant difference in the mean patellar width and thickness, the lateral patellar facet angle, and the Wiberg angle in low-grade and high-grade dysplasia (P > 0.05). CONCLUSION: On CT scans, the patella in trochlear dysplasia had a smaller width, a thinner thickness, a lengthened lateral facet, and a more flattened articular facet. In addition, the patellar articular facet was more prominent in female patients. With the severity of trochlear dysplasia increased, the lateral patellar facet became longer. In addition, the abnormal stress distribution on the patella influenced the patellar morphology in trochlear dysaplasia.

Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know.

PURPOSE OF REVIEW: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options. RECENT FINDINGS: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia. One needs to consider that a patient with short stature has a skeletal dysplasia as options for management may be available.

Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII.

Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases caused by mutations in lysosomal enzymes involved in degradation of glycosaminoglycans (GAGs). Patients with MPS grow poorly and become physically disabled due to systemic bone disease. While many of the major skeletal effects in mouse models for MPS have been described, no detailed analysis that compares GAGs levels and characteristics of bone by micro-CT has been done. The aims of this study were to assess severity of bone dysplasia among four MPS mouse models (MPS I, IIIA, IVA and VII), to determine the relationship between severity of bone dysplasia and serum keratan sulfate (KS) and heparan sulfate (HS) levels in those models, and to explore the mechanism of KS elevation in MPS I, IIIA, and VII mouse models. Clinically, MPS VII mice had the most severe bone pathology; however, MPS I and IVA mice also showed skeletal pathology. MPS I and VII mice showed severe bone dysplasia, higher bone mineral density, narrowed spinal canal, and shorter sclerotic bones by micro-CT and radiographs. Serum KS and HS levels were elevated in MPS I, IIIA, and VII mice. Severity of skeletal disease displayed by micro-CT, radiographs and histopathology correlated with the level of KS elevation. We showed that elevated HS levels in MPS mouse models could inhibit N-acetylgalactosamine-6-sulfate sulfatase enzyme. These studies suggest that KS could be released from chondrocytes affected by accumulation of other GAGs and that KS could be useful as a biomarker for severity of bone dysplasia in MPS disorders.

A review of the principles of radiological assessment of skeletal dysplasias.

There are more than 450 well-characterized skeletal dysplasias classified primarily on the basis of clinical, radiographic, and molecular criteria. In the latest 2010 revision of the Nosology and Classification of Genetic Skeletal Disorders, an increase from 372 to 456 disorders had occurred in the four years since the classification was last revisited in 2007. These entities in total represent about 5% of children with birth defects. An accurate diagnosis of a skeletal dysplasia is still based on detailed evaluation of clinical and radiographic [as well as chondro-osseous] findings. Regardless of the specific diagnosis, skeletal dysplasias in general share clinical and radiological findings helping us to group them in several ways. This review aims to outline the diagnostic approach to disproportionate short stature with special emphasis on radiological findings.

[Characteristics of clinical findings and radiological assessment of high grade developmental spondylolisthesis].

OBJECTIVES: To investigate clinical appearance and radiological characteristics of high grade developmental spondylolisthesis and their significance. METHODS: In a retrospective study, a group of 6 female patients, who were diagnosed as high grade developmental spondylolisthesis and treated in Peking University third hospital from March 2007 to December 2008 were included. Clinical and radiological characteristics of the 6 patients were investigated and the following parameters were measured on standing lateral X-ray: PI (pelvic incidence), SK (sacral kyphosis) and LL (Lumbar lordosis). A series of 44 patients who came to out-patient department due to LBP and had no positive findings on lateral lumbar X-ray were selected as the control group. The four parameters were compared between study group and control group. Clinical meanings of significant difference were discussed. RESULTS: Clinical findings of high grade developmental spondylolisthesis included bending of knees, deformity of trunk and sciatica. Radiological appearances were characterized with kyphosis of lumbo-sacral joint, retroverted pelvis and domed sacrum. Spondylolisthesis patients has an average PI of (52 +/- 7) degrees which was significant higher than the control group [(43 +/- 8) degrees ] (P < 0.01). LL of study group [(51 +/- 10) degrees ] was higher than that of the control group [(18 +/- 9) degrees ] (P < 0.01) and SK of the study group [(12 +/- 11) degrees ] were lower than that of the control group [(21 +/- 10) degrees ] (P < 0.05). CONCLUSIONS: Characteristics of clinical findings of spondylolisthesis patients have obvious cosmetic appearance, significant pain and lower neurological deficits. Radiological characteristics display deformity of lumbo-sacral joint. PI, LL and SK are significant parameters for high grade spondylolisthesis.

Contribution of three-dimensional computed tomography in the assessment of fetal skeletal dysplasia.

OBJECTIVE: To compare the diagnostic accuracy of two-dimensional (2D) ultrasound and three-dimensional (3D) computed tomography (CT) for the diagnosis of fetal skeletal anomalies. METHODS: Eleven pregnant women underwent 2D ultrasound and 3D-CT. Ten fetuses presented skeletal anomalies on 2D ultrasound and one fetus had a normal ultrasound exam but a familial history of osteopetrosis. We compared retrospectively the diagnoses established on 2D ultrasound and 3D-CT with the neonatal and/or postmortem work-up, which were used as the gold standard. RESULTS: 2D ultrasound provided the correct diagnosis in only two of the 11 cases. CT yielded the correct diagnosis in eight; in six of these, 2D ultrasound had been inconclusive. 3D-CT was more accurate than was 2D ultrasound in visualizing vertebral anomalies (abnormal shape of the vertebral bodies, abnormal interpedicular distance), pelvic bone malformations (delayed ossification of the pubic bones, abnormal acetabular shape) and enlarged metaphysis or synostoses in long bones. In three cases, neither 2D ultrasound nor CT provided the correct diagnosis. CONCLUSION: In this series, which included a variety of skeletal dysplasias, 3D-CT had a better diagnostic yield than did 2D ultrasound. Both imaging techniques are useful in the management of fetal dysplasia; 2D ultrasound is a useful screening test and 3D-CT is a valuable complementary diagnostic tool.

Prenatal assessment of normal fetal humerus volume by three-dimensional ultrasound.

Because fetal humerus dysplasia is associated with a variety of congenital syndromes, prenatal assessment of the fetal humerus growth is very important. The fetal humerus volume is one of the indexes in evaluating the humerus growth, but it has never been studied by 3-D ultrasound (US) in utero. To establish a normal reference chart of the fetal humerus volume for clinical use, we undertook a prospective and cross-sectional study using 3-D US to assess the fetal humerus volume in normal pregnancy. A total of 216 singleton fetuses that ranged between 20 and 40 weeks of gestation and fit the criteria of normal pregnancies were included in this study. Our results showed that the fetal humerus volume is highly correlated with the gestational age (GA). Using GA as the independent variable and the humerus volume as the dependent variable, the best-fit regression equation was humerus volume (mL) = 0.0044GA(2) - 0.0841GA + 0.6874 (r = 0.97, n = 216, p < 0.0001). For clinical use, a chart of normal growth centiles of the fetal humerus volume was then established based on this equation. In addition, the common indexes of fetal biometry, such as biparietal diameter, occipitofrontal diameter, head circumference, abdominal circumference, femur length and estimated fetal weight, were all highly correlated with the humerus volume (all p < 0.0001). In conclusion, our data of the fetal humerus volume assessed by 3-D US can serve as a useful reference in evaluating the fetal humerus growth during normal gestation.

Assessment of early osteoarthritis in hip dysplasia with delayed gadolinium-enhanced magnetic resonance imaging of cartilage.

BACKGROUND: The efficacy of surgical and medical treatment of osteoarthritis is difficult to assess because of the lack of a noninvasive, sensitive measure of cartilage integrity. Delayed gadolinium-enhanced magnetic resonance imaging of cartilage (dGEMRIC) was designed to specifically examine glycosaminoglycan changes in articular cartilage that occur during the development of osteoarthritis. Our primary goal was to compare this technique with measurement of the joint space width on conventional radiographs in patients with hip dysplasia. We performed this comparison by assessing the correlation between the findings of each technique and clinically important factors such as pain, severity of dysplasia, and age. METHODS: Sixty-eight hips in forty-three patients were included in the study. Clinical symptoms were assessed with use of the Western Ontario and McMaster Universities Osteoarthritis (WOMAC) questionnaire. The width of the joint space as well as the lateral center-edge angle of Wiberg (as a measure of the severity of the dysplasia) was measured on standard standing radiographs. Magnetic resonance imaging maps of glycosaminoglycan distribution were made with T1-calculated images after administration of gadopentetate (2-) (Gd-DTPA (2-) ). The dGEMRIC index was calculated as the average of the T1 values for the acetabular and femoral head cartilages. RESULTS: The dGEMRIC index correlated with both pain (rs = -0.50, p < 0.0001) and the lateral center-edge angle (rs = 0.52, p < 0.0001), whereas the joint space width did not correlate with either, with the numbers available. There was a correlation between the dGEMRIC index and pain whether or not a labral tear was present. The dGEMRIC index was significantly different (p < 0.0001) among three groups of hips classified according to whether they had mild, moderate, or severe dysplasia, whereas the joint space width did not differ significantly among these three groups. There was no significant correlation between age and any of the other parameters. CONCLUSIONS: We demonstrated that, in patients with hip dysplasia, the dGEMRIC index-a measure of the biochemical integrity of cartilage-correlates with pain and the severity of the dysplasia and is significantly different among groups of hips with mild, moderate, and severe dysplasia, suggesting that it may be a sensitive measure of early osteoarthritis. Additional studies are needed to determine whether dGEMRIC can be used to predict disease progression in different situations and/or demonstrate responses to therapeutic interventions.

Ultrasound screening for hips at risk in developmental dysplasia. Is it worth it?

Between May 1992 and April 1997, there were 20,452 births in the Blackburn District. In the same period 1107 infants with hip 'at-risk' factors were screened prospectively by ultrasound. We recorded the presence of dislocation and dysplasia detected under the age of six months using Graf's alpha angle. Early dislocation was present in 36 hips (34 dislocatable and 2 irreducible). Of the 36 unstable hips, 30 (83%) were referred as being Ortolani-positive or unstable; 25 (69%) of these had at least one of the risk factors. Only 11 (31%) were identified from the 'at-risk' screening programme alone (0.54 per 1000 live births). Eight cases of 'late' dislocation presented after the age of six months (0.39 per 1000 live births). The overall rate of dislocation was 2.2 per 1000 live births. Only 31% of the dislocated hips belonged to a major 'at-risk' group. Statistical analysis confirmed that the risk factors had a relatively poor predictive value if used as a screening test for dislocation. In infants referred for doubtful clinical instability, one dislocation was detected for every 11 infants screened (95% confidence interval (CI) 8 to 17) whereas in infants referred because of the presence of any of the major 'at-risk' factors the rate was one in 75 (95% CI 42 to 149). Routine ultrasound screening of the 'at-risk' groups on their own is of little value in significantly reducing the rate of 'late' dislocation in DDH, but screening clinically unstable hips alone or associated with 'at-risk' factors has a high rate of detection.

Hyperphosphatasemia: CT assessment.

Hyperphosphatasemia is a rare disorder of uncertain cause. A 39-year-old male exhibiting striking skeletal deformities consisting of enlargement of the skull, enlargement and bowing of the long bones, neurosensorial symptoms and elevated alkaline phosphatase is the subject of this report. In the past, the radiological workup has been limited to plain films. We advocate CT in the assessment of neurological signs and symptoms which may complicate this disease.

Langenskiöld classification of tibia vara: an assessment of interobserver variability.

Six pediatric orthopaedic specialists and six senior orthopaedic residents independently classified 60 radiographs of infantile tibia vara according to the six-stage Langenskiöld classification. Correlation coefficients and percentage agreement were similar in both groups. Interobserver agreement was good for early and late stages, but was poor for intermediate stages. We caution clinicians that small but frequent discrepancies in radiographic staging impart a dubious prognostic value to the Langenskiöld classification.

Glenoid hypoplasia: assessment by computed tomographic arthrography.

Four cases of an uncommon congenital skeletal anomaly, isolated bilateral glenoid hypoplasia, are presented with discussion of the possible pathogenesis and clinical significance. Bilateral computed tomographic arthrography of the shoulder demonstrated thickening of the inferior glenoid cartilage in two cases. The technique was of value in the symptomatic shoulder revealing the location of a contrast medium filled cleft within the posterior cartilage in one case and the true configuration of the glenohumeral joint in the second case, when the degree of deformity had rendered plain radiographs and conventional arthrography uninterpretable.

[Quantitative assessment of qualitative traits of radionuclide images of the bones]. / Kolichestvannaia otsenka kachestvennykh priznakov radionuklidnykh izobrazhenii kostei skeleta.

The results of radionuclide visualization of 147 patients with primary bone pathology were analyzed using probability algorithms. This analysis resulted in the determination of several groups of signs of various degrees of reliability in the diagnosis of some types of bone pathology. Diagnostic algorithms allow summing up and classifying practical experience and to test hypotheses, put forward by some of the physicians as a result of their practical activities. The use of probability algorithms in radionuclide studies is necessitated by a great variety of radiopharmaceuticals and a multitude of radiodiagnostic approaches to the standardization of methods and unification of diagnostic decisions.

A method for assessment of skeletal maturity in children below one year of age.

Although there is a continuing clinical interest in the radiological determination of skeletal development in children below one year of age, none of the existing methods is particularly appropriate. We have therefore developed a new and simple method of assessment. This takes into account the dose of radiation and the two aspect of size and maturity of the skeleton; and so we choose to study the lateral view of the tarsus. The calcaneus and talus are ossification centers appearing before birth. The sum of length and height of these centers constitutes the first part of the assessment. The second part of our evaluation includes an appraisal of the cuboid, the third cuneiform and distal epiphyses of tibia and fibula. For practical purposes we have chosen to relate the two different aspects of skeletal maturity which we have assessed to the weight of the baby.