Manubrium sterni in patients with diastrophic dysplasia--radiological analysis of 50 patients.

BACKGROUND: Patients with diastrophic dysplasia (DD) have many typical and some peculiar radiological findings in their skeleton. Currarino reported recently that 6 of his 12 patients with DD had accessory ossification centers of the manubrium sterni. OBJECTIVES: This study analyzed abnormalities of the manubrium sterni in patients with DD to find out more about the prevalence and natural history. MATERIALS AND METHODS: A total of 50 patients with DD (22 male, 28 female) were included in this retrospective analysis. The average age of patients at the time of the first radiograph,was 7.1 years (range: newborn-34.7 years). Lateral radiographs of the spine or the chest were included. Follow-up was of 20 patients (40%) with an average age of 8 years (range: 1-24 years). The number, location, and time of the radiological fusion of accessory ossification centers were analyzed. Additionally, the form of the manubrium was evaluated using an arbitrary scale with three grades. RESULTS: Accessory ossification centers were seen in the first radiograph of 16 (32%) patients. The first radiographs of 16 patients were taken before the age of 18 months; 13 (81%) of them had accessory ossification centers. The most common finding was an accessory ossification center located ventral to the cranial part of the manubrium (a double-layered manubrium). In older patients, the manubrium was usually bulging anteriorly, resembling an asymmetric club. It was as if there had been an accessory ossification center that had fused with the main part of the manubrium. CONCLUSIONS: The manubrium sterni is abnormal in almost all patients with DD. The prevalence of accessory ossification centers in childhood is high. The presence of an accessory ossification center ventral or cranial to the manubrium in radiographs may help in making the diagnosis of DD.

Reference values for radiological evaluation of cervical vertebral body shape and spinal canal.

BACKGROUND: Defining normal values is essential for reliable evaluation of growth disturbances. Previous studies of the cervical spine have mainly focused on the sagittal canal diameter and interpedicular distances. Values for vertebral body height and depth have been published only in adult men and cadavers. OBJECTIVES: To define normal values for vertebral body height (H)/vertebral body depth (D) ratio (H/D ratio) and sagittal canal diameter (S)/ vertebral body depth ratio (S/D ratio) in C2-7. MATERIALS AND METHODS: Lateral cervical spine radiographs were available from 441 children and 192 adults. Subjects' ages varied from newborn to 39 years. Vertebral body height and depth and sagittal canal diameter were measured and ratios were calculated. This was a cross-sectional and retrospective study. RESULTS: Vertebral bodies grow relatively more in height than in depth, most actively at puberty. At all levels, the H/D ratio remains below 1, indicating that vertebral body depth is greater than height. The SD ratio is quite stable until 7-8 years of age and then it starts to decline slowly. CONCLUSIONS: When estimating platyspondyly, the age of the patient must be taken into consideration because vertebral body height is lower in children. Growth of the spinal canal declines after 7-8 years of age.

Cervical kyphosis in diastrophic dysplasia.

STUDY DESIGN: An evaluation of cervical kyphosis in diastrophic dysplasia from newborn to adult life. OBJECTIVES: To discover the prevalence and natural history of cervical kyphosis in diastrophic dysplasia. SUMMARY OF BACKGROUND DATA: Typical findings in this rare skeletal dysplasia are sport-limbed short stature, multiple joint contractures, early degeneration of joints, and spinal deformities such as cervical kyphosis, scoliosis, and exaggerated lumbar lordosis. In diastrophic dysplasia, spontaneous resolution of cervical kyphosis has been reported, but so have severe forms causing medullar compression leading to quadriplegia and death. The prevalence and clinical outcome of the kyphosis are not known. METHODS: The radiographic natural history of the cervical spine was studied in 120 patients. They varied in age from newborns to 63-year-olds. The average follow-up time in 26 living patients with cervical kyphosis was 10.0 years. RESULTS: Midcervical kyphosis was noted in 29 patients (24%) in their first radiograph. In 25 patients, the first radiographs were taken before the age of 18 months, and 24 of these patients (96%) had cervical kyphosis. The most severe case was that of a 32-year-old patient with a 165 degrees kyphosis. In the 24 patients, the kyphosis resolved spontaneously at an average age of 7.1 years. Three patients with a severe kyphosis died; one patient is alive. One patient, a 4-year-old child has mild resolving deformity. CONCLUSIONS: Cervical kyphosis in diastrophic dysplasia usually is shown at the time of birth. It resolves spontaneously during growth and seldom needs treatment. Careful follow-up study and treatment, if necessary, are important tools for avoiding the neurologic problems and fatal outcome.

The knee joint in diastrophic dysplasia. A clinical and radiological study.

We examined clinically and radiologically the knees of 46 patients (27 females and 19 males) with diastrophic dysplasia. The age of the patients varied from newborn to 38 years. A total of 18 patients was followed during their growth until adolescence. The knees of two legally aborted fetuses appeared on examination to be macroscopically normal and congruous. Excessive valgus deformity of the tibiofemoral weight-bearing angle with a mean of 14 degrees was noted in infancy. Most of the patients had marked instability of the knees. The range of movement of the knee began to decrease before the age of five years. There were signs of early degeneration and deformation of the bony epiphyses before the age of six years. The patellofemoral joint was abnormal from an early age. A marked patella infera, often associated with a lateral position of the patella with bony fragmentation, was noted. The knee in diastrophic dysplasia is basically unstable, showing early deformation of the subchondral bone and degeneration of the joint.

Cohen syndrome: evaluation of its cardiac, endocrine and radiological features.

Cohen syndrome (MIM no. 216550) is an autosomal recessive disorder with a typical clinical picture. Since the first report, most publications have represented single case reports. In this study, our aim was to describe cardiac, endocrine and radiological abnormalities in 22 Cohen patients of Finnish descent. Detailed investigations of the heart revealed the anatomy of the heart to be normal with no evidence for clinically significant mitral prolapse. However, a decreased left ventricular function with advancing age was identified. No significant endocrine abnormalities were found at the examination of pituitary, adrenal and thyroid function. The height was either normal or patients were moderately short (mean height standard deviation score (SDS) - 2) at all ages, associated, however, often with the marked kyphosis. Truncal obesity was seen in 4/22 patients. X-rays of the chest, lumbar and thoracic spine, long bones, ankles and metacarpophalangeal pattern profiles revealed kyphosis, scoliosis and calcaneo planovalgus as common features. Fingers of these patients were slender but short with a characteristic metacarpophalangeal pattern profile.

Excessive infantile growth and early pubertal growth spurt: typical features in patients with aspartylglycosaminuria.

Rapid infantile growth was the first clinical sign in patients (n = 51) with aspartylglycosaminuria, a lysosomal storage disorder. Even if young children with aspartylglycosaminuria were tall for their age, an early but weak pubertal growth spurt in both sexes resulted in reduced adult heights.

Outcome of Perthes' disease in unselected patients after femoral varus osteotomy and splintage.

We evaluated 56 hips (48 patients) with Perthes' disease to compare the radiographic results of two unselected groups: one treated with femoral varus osteotomy (22 hips) and another with Thomas splint (34 hips). The patients with less than 50% femoral head involvement (Salter Group A hips) seemed to have no advantage from the operation. The angle of the femoral neck was 10 degrees less in the operative group than in the nonoperative group. In hips with more than 50% head involvement (Salter Group B), the operative method resulted in slightly better coverage and sphericity of the femoral head than the conservative method. On average, the acetabular direction was similar in both groups. The authors conclude that femoral varus osteotomy may lead to residual coxa vara and does not necessarily improve the radiographic results in limited epiphyseal involvement. Neither does the operation have an effect on the acetabular direction in severe Perthes' disease.

Ultrasonography of the patellofemoral joint in diastrophic dysplasia.

Plain radiographs do not provide adequate information in diastrophic dysplasia (DD) because of abnormal ossification and severe deformation of the knee joint. Radiographically, the lateral femoral condyle is hypoplastic, and the position of patella is difficult to define. In clinical examination, the patella is inferior and lateral. In this study, the anatomy of the patellofemoral joint in DD is described using ultrasound. Both knees of 13 patients with DD were examined. The alignment of patella, the angle of femoral sulcus, and the size of both femoral condyles were measured. Student's paired t test with two-tailed significance probability was applied for differences in mean values, and their 95% confidence limits were computed. The femoral sulcus angle averaged 129 degrees and was deeper than that (142 degrees) in normal knees. The lateral femoral condyle was smaller than the medial condyle. The patella was aligned lateral to the bottom of femoral sulcus. In 10 degrees knee flexion, the patella remained laterally in the sulcus with no true patellar dislocation. Vertical position of the patella averaged 2.9 mm distal to the femorotibial joint. The study showed that, in patients with DD, the anatomic complex of the femoral condyles and patella deviates laterally, and the patellofemoral joint is deformed with a hypoplastic lateral condyle, a deep femoral groove, and a distally aligned patella.

The value of MRI in early Perthes' disease: an MRI study with a 2-year follow-up.

Eleven hips in nine patients with Perthes' disease were studied by plain radiography at 3-month and MRI at 6-month intervals over a period of 2 years. The aim was to clarify the value of MRI in estimating epiphyseal involvement and in predicting uncoverage of the epiphysis. Signal intensities of the epiphysis and metaphysis were visually evaluated from T1- (T1W) and T2-weighted (T2W) images. The extent of decreased signal intensity (DSI) in the epiphyses was volumetrically calculated from T1W images and then compared with follow-up radiographs. The area of epiphyseal DSI corresponding best with Catterall's classification was seen by MRI 3-8 months after the first symptoms. MRI images obtained earlier usually showed less involvement than the follow-up radiographs. However, two features predicting extensive epiphyseal necrosis were: (1) DSI on both T1W and T2W images covering over two-thirds of the epiphysis and (2) diffuse bone marrow oedema of the femoral neck and metaphysis. When T1W images showed a reappearance of high signal intensity patches in the lateral quarter of the epiphysis, no clinically significant uncoverage was seen during the follow-up. Extensive epiphyseal necrosis can, therefore, sometimes be predicted by MRI even within the first 3 months, but MRI visualises epiphyseal involvement more clearly 3-8 months after the first symptoms.

Psychosocial development and premorbid skeletal growth in Legg-Calvé-Perthes disease: a study of nineteen patients.

We studied psychosocial development and skeletal growth in 19 newly diagnosed patients with Legg-Calvé-Perthes disease (LCPD). Eleven patients had problems in visuospatial skills and five of 12 school-aged children had learning difficulties. The growth velocity of the patients was evaluated from 4 years before until 2 years after the diagnosis was made. Eight patients had a catch-up growth with +1.2 (0.9-1.7) delta SDS score (SDS: mean and ranges) before the diagnosis. Four patients with short stature and retarded bone age slightly diminished their growth velocity. Overnight serum growth hormone (GH) concentration and insulin-like growth factor I (IGF-I) levels were examined in the first nine consecutive patients. One patient had a high and another had a low mean GH concentration level, whereas all patients had IGF-I levels within normal limits. These results suggest that different kinds of growth disturbances may be associated with LCPD.

Segmental colonic motility in patients with anorectal malformations.

BACKGROUND: Constipation is one of the most important functional sequelae in patients with anorectal malformations. The cause of this motility disorder is unknown. AIM: The purpose of this study was to assess total colonic transit time (TCT) and segmental colonic transit time (SCT) in patients with anorectal malformations. METHOD: Ninety patients with anorectal malformations (40 low and 50 high; median age, 7 years; range, 3 to 13) and twenty-five healthy children (median age, 8 years; range, 3 to 14 years) underwent measurement of TCT and SCT by the saturation technique. Ten radiopaque markers were ingested daily for 6 days followed by administration of a single abdominal x-ray on day 7. TCT in days was calculated by dividing the number of retained markers in the whole colon by the daily intake. SCT in four colonic segments (right, transverse, left, rectosigmoid) was described as a percentage of TCT (markers in one segment versus total number of retained markers). In high anomalies the degree of rectosigmoid dilatation was assessed by contrast enemas taken before closure of the stoma and later during follow-up. RESULTS: TCT was significantly (P < .03) prolonged in patients with anorectal anomalies (median high, 2.1 days; low, 1.9 days versus 1.3 in healthy subjects). In patients with high anomalies right SCT was prolonged when compared with low anomalies and healthy subjects (median high, 24% versus low, 10% and normal subjects, 10%; P < .01). The impairment was more severe in patients with very high anomalies (P < .005). Patients with a low anomaly had prolonged rectosigmoid SCT (median low, 65% versus high, 43% and normal subjects, 49%; P < .05). Prolonged right colonic SCT and TCT correlated with symptomatic constipation in patients with high anomalies (P < .05) but not with those who had low anomalies. Impaired overall functional outcome correlated with prolonged right colonic SCT in patients with high anomalies and with prolonged rectosigmoid SCT in patients with low anomalies. There was no correlation between the degree of rectosigmoid dilatation and SCT or TCT. CONCLUSION: Patients with anorectal malformations have abnormal colonic motility. The type of motility disorder in low anomalies is rectosigmoid hypomotility. In patients with high anomalies the motility disturbance is more generalized. The overall functional outcome was strongly related to the degree of these motility disorders.

Very low rate of type I collagen synthesis and degradation in newly diagnosed children with acute lymphoblastic leukemia.

In children with acute lymphoblastic leukemia (ALL), the metabolism of type I collagen, the major collagen of bones, may be changed at diagnosis and during early chemotherapy. In the present study, bone formation and degradation rates were evaluated longitudinally in 35 children with ALL, using two serum markers of bone collagen formation: the amino-terminal (PINP) and carboxyterminal (PICP) propeptides; and a marker of degradation: the carboxyterminal telopeptide of type I collagen (ICTP). These serum markers were determined at diagnosis, during induction treatment (at 1, 4, and 6 weeks), and during consolidation treatment (at 8 and 12 weeks). The changes in the serum markers suggested that, at diagnosis, type I collagen turnover (i.e., both synthesis and degradation) was remarkably low. The median serum levels of PINP, PICP, and ICTP were -2.6 SDS (standard deviation score), -1.5 SDS, and -2.5 SDS, respectively. The PICP and PINP levels declined further during the first week of therapy (p < 0.001), whereas the ICTP levels had risen by end of the induction phase (p < 0.05). By the end of the 12 week interval, the concentrations of the formation and degradation markers had returned to normal (p < 0.01). Our findings suggest that ALL is accompanied by low turnover of bone collagen. The abnormalities are at first aggravated, but then corrected, by treatment.

Central venous thrombosis after cardiac operations in children.

To evaluate the incidence, mortality, late outcome, and cause of central venous thrombosis after pediatric heart operations and other operations performed with cardiopulmonary bypass, we identified patients with postoperative central venous thrombosis during a 10-year period at a single pediatric hospital. There had been 1591 open heart (with bypass) and 1086 closed heart (no bypass) procedures and 13 operations with cardiopulmonary bypass for extracardiac indications. There were 20 patients with central venous thrombosis, yielding incidences of 1.1% and 0.2% after cardiopulmonary bypass and after closed heart operations, respectively. When neonates were compared with older children (1 to 119 months of age) undergoing heart procedures, a tenfold increase (5.8% vs 0.6%) (p < 0.001) in the incidence of central venous thrombosis was observed. The mortality was eight of 20 (40%). Central venous thrombosis contributed to seven deaths and it was a direct cause of one death. Ten patients were reinvestigated 5 to 108 months after central venous thrombosis. The outcome of surgery was excellent in eight. Two had residual thrombosis, but this was not hemodynamically significant to the cardiorespiratory condition of the patients. During or preceding thrombosis, low levels of antithrombin III and/or protein C and high levels of the plasminogen activator inhibitor were observed in five of the patients. A congenital thrombotic risk factor, "resistance to activated protein C," was found in two of 12 tested patients with central venous thrombosis (17%). In conclusion, central venous thrombosis, especially in neonates, is an important cause of morbidity and mortality after cardiac operations. The cause is multifactorial, with contributions from multiple acquired thrombophilic coagulation abnormalities, and resistance to activated protein C may act as a risk factor for thrombosis already during neonatal period.

MRI in late sequelae of Perthes' disease: imaging findings and symptomatology in ten hips.

Five painful (group A) and five symptomless (group B) hips in nine patients with late sequelae of Perthes' disease were studied with plain radiography and magnetic resonance imaging (MRI) in order to correlate MRI findings with symptomatology. The unaffected hips were also studied. In group A hips, poor congruence of the articular cartilage surfaces was present in three of five cases, whereas good congruence was found in all group B hips. In one spherical but painful hip (group A), MRI revealed a protuberance in the anterolateral cartilage of the femoral head. The joint cartilage in group A and B hips was, on average, 0.5 and 1.5 mm thicker, respectively, than the cartilage in the unaffected hips. The lateral joint capsule was, on average, 3.0 mm thicker in group A hips than in the unaffected hips (P < 0.05), which possibly reflects reactive changes due to chronic irritation in the painful hips. The mean joint capsule thickness differed by only 0.5 mm between the unaffected and group B hips. Mean anterior acetabular coverage by MRI was 97 % in group A and 98 % in group B, while in the unaffected hips mean anterior coverage was 102 %. In an aspherical painful hip, MRI revealed a juxta-articular cyst not visible by radiography. A symptomless intra-articular fragment, due to osteochondritis dissecans, was well visualized with MRI. MRI is recommended for evaluation of pain in hips with late sequelae of Perthes' disease. It may show abnormalities in bony structures, as well as in joint capsule and cartilage.

Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).

Type II collagenopathies consist of chondrodysplasias ranging from lethal to mild in severity. A large number of mutations has been found in the COL2A1 gene. Glycine substitutions have been the most common types of mutation. Genotype-phenotype correlations in type II collagenopathies have not been established, partly because of insufficient clinical and radiographic description of the patients. We found a glycine-to-arginine substitution at position 154 in type II collagen in two unrelated isolated propositi with spondyloepimetaphyseal dysplasia and provide a comparative clinical and radiographic analysis from birth to young adulthood for this condition. The clinical phenotype was disproportionate short stature with varus/valgus deformities of the lower limbs requiring corrective osteotomies, and lumbar lordosis. The skeletal radiographs showed an evolution from short tubular bones, delayed epiphyseal development, and mild vertebral involvement to severe metaphyseal dysplasia with dappling irregularities, and hip "dysplasia." The metaphyseal abnormalities disappeared by adulthood.

A retrospective analysis of 36 civilian gunshot fractures.

A critical retrospective analysis was conducted of 36 gunshot fractures admitted from 1985 to 1989 in Finland by using the statistics of the Central Medical Board. The information was analyzed for demographic details and from consumption of hospital resources point of view, with special attention to gunshot injuries to long bones. The fractures were classified by using the grading system of Gustilo et al. into three categories: type A (60%), type B (12.3%), and type C (27.7%). Debridement of wounds was done successfully in two-thirds of the wounds, but was insufficient in nine cases. Fasciotomy was insufficient in seven cases. The fractures were immobilized by external fixation (Hoffmann) in two-thirds of the patients. Primary internal fixation was used in three femoral and one tibial fracture with severe complications. The tibia and femur were the most frequent sites involved, thus accounting for 13 infections. The infection rate, including two septicemias and four cases of osteomyelitis, could have been lower if war surgical principles were accepted or known in the management. The same could be considered in avoiding four compartment syndromes and six ununited fractures.

Constipation is a major functional complication after internal sphincter-saving posterior sagittal anorectoplasty for high and intermediate anorectal malformations.

Anorectal function was clinically, manometrically, and radiologically followed-up in 40 patients who underwent an internal sphincter-saving posterior sagittal anorectoplasty in 1984 to 1989. The functioning internal sphincter was manometrically verified in 83% (33/40) of the patients. Soiling related to sphincter insufficiency was found in only 4 of the 33 patients with a functioning internal sphincter; 5 of the 7 patients without an internal sphincter had soiling. Symptomatic constipation was found in 73% (24/33) of the patients with a functioning internal sphincter, but in only 28% (2/7) of the patients without this structure. Constipation was not associated with a stenotic anal outlet in any patient. On anorectal manometry, there was no statistical difference in basal and pressures and internal sphincter reflex threshold values between constipated and nonconstipated patients. Histologically, ganglion cells were found in the proximal anal canal in all cases. The radiological size of the rectal pouch before closure of the protecting colostomy had a positive correlation with the severity of constipation. Medical treatment with diet and bulk-laxatives (13 patients) or with stimulant laxatives and occasional enemas (11 patients) successfully relieved constipation in 24 patients. In 2 patients, the symptoms were refractory to medical treatment and a resection of the megarectum was required. In conclusion, the preservation of the internal sphincter in patients with high or intermediate anorectal anomalies gives a good fecal continence outcome, but is associated with a high incidence of symptomatic constipation.

Spinal deformity induced by radiotherapy for solid tumours in childhood: a long-term follow up study.

A group of 44 individuals were re-evaluated at a median follow up time of 19 years after radiotherapy for childhood cancer involving some part of the vertebral column. The median age at diagnosis was 2.6 years. The diagnosis included Wilms' tumour (n = 24), neuroblastoma (n = 9) and other solid tumours (n = 11). Scoliosis with or without kyphosis was the most common spinal deformity and was found in 40/44 patients. The apex of the major curvature was on the lumbar vertebral body 1-3 in 23 cases. The kyphosis and lordosis were greater in the subjects with tumour other than Wilms' (P = 0.04 both). Of the subjects restudied, 35 had detectable local soft tissue atrophy in the region of irradiation. Scoliotic deformity often enhanced cosmetic handicap/defect. Five subjects reported some symptoms related to the back; they had more severe scoliotic and kyphotic deformity (P = 0.02). Spinal abnormalities were common in these survivors, but subjective complaints were unusual.

Firearm injuries in Finland 1985-1989.

Over a 5-year period 1985-1989, a total of 1,268 persons, 5.1 cases per 100,000 person-years, required hospital treatment for injuries caused by firearms in Finland. During the same period 1,295 persons died on the scene of the shooting or during transport to hospital. Among the 1,268 patients admitted alive, the principal modes of the shooting incident were accidental shooting in 57%, suicidal attempt in 20% and assault in 13%. The male:female ratio was 11:1. The median age of the patients was 31 years. The anatomical distribution of the injuries was as follows: skull or face in 36%, chest or abdomen in 17% and extremities in 47%. The mean duration of the hospital stay was 13 days. In all, 16,506 hospital days were required. Of the 1,268 patients 141 died in hospital. The hospital mortality was 104/255 in suicidal shootings, 26/158 in assaults but only 9/725 in accidents. This study showed that firearm injuries cannot be considered a negligible medical problem in Finland.

Foot deformities in diastrophic dysplasia. An analysis of 102 patients.

The exceptionally high prevalence of diastrophic dysplasia in Finland has enabled us to analyse the foot deformities of 102 patients at their first orthopaedic evaluation and classify 204 feet into five categories. The most common finding (43%) was a foot with tarsal valgus deformity and metatarsus adductus; 37% showed either equinovarus adductus (29%) or equinus (8%) deformities. At the first examination 13% showed metatarsus adductus deformity alone, and 7% were clinically normal. The expression 'club foot', generally used for the foot deformity in diastrophic dysplasia is a misnomer. There is a wide spectrum of deformities, some of them specific for the condition.