Background: A gene for Larsen syndrome was recently described, and mutations were reported in five cases.Objective: To test whether mutations in this gene, FLNB, could explain the disease in our independent collection of sporadic and dominant Larsen syndrome cases; and to test whether mutations occurred in a non-random pattern.Results: Missense mutations were found in each of five cases. Four of the five were new; one was reported in a sporadic case in the original Larsen syndrome study of five cases. All mutations from the two studies were compiled. Clustered mutations were observed within three filamin B protein domains: the calponin homology 2 domain, repeat 14, and repeat 15. This suggested that as few as five (of the total of 46) coding exons of FLNB could be screened to detect Larsen syndrome mutations. Four of these exons were screened in a sixth (sporadic) case and a previously reported G1691S substitution mutation detected.Conclusions: Mutations in FLNB may be responsible for all cases of Larsen syndrome. They appear to occur in specific functional domains of the filamin B protein. This should simplify diagnostic screening of the FLNB gene. Analyses in larger patient series are warranted to quantify this. The study confirmed the extreme variability in clinical presentation and the presence of unaffected carriers. A molecular screen would be valuable for diagnosis and genetic counselling.

STUDY DESIGN:Retrospective review case series. OBJECTIVE:To evaluate the incidence, patterns, and treatment of scoliosis in a Down syndrome population. SUMMARY OF BACKGROUND DATA:Despite a preponderance of literature concerning cervical abnormalities in Down syndrome, there is little information concerning scoliosis in this patient group. We examined the 50-year history of treating scoliosis at our institution in patients with Down syndrome. METHODS:Following institutional review board approval, chart review identified patients with Down syndrome with scoliosis. We performed a radiographic review of curve pattern, and determined results of brace and operative treatment. RESULTS:A total of 379 patients were identified as having Down syndrome. There were 33 patients diagnosed with scoliosis, for an incidence of 8.7%. Mean follow-up was 4.15 years (range 0-12). The double major curve predominated with 18 (55%). Of 33 patients, 16 (49.5%) had previously undergone thoracotomy for congenital heart defects. There were 8 (24%) patients who were braced for an average of 26.5 months (range 12-63), with an average progression in brace of 10 degrees (range 0 degrees-44 degrees), 3 of whom went on to spinal fusion. There were 7 (21.2%) patients who underwent spinal fusion, including 6 posterior spinal fusions and 1 anterior spinal fusion. Four patients had complications, including 3 pseudarthroses, 4 implant failures, 3 superior junctional kyphosis, and 1 infection, for a 57% complication rate. CONCLUSIONS:Scoliosis developed in 8.7% of patients with Down syndrome. There was a high rate of cardiac surgery within this population. Bracing was ineffective for the majority of the patients treated. Although surgery has a high rate of complications, there was only one patient who underwent reoperation.

Intraoperative somatosensory evoked potential (SSEP) monitoring was performed in eight children who had undergone an acute deformity correction in the lower extremities using external fixation. Five patients showed stable evoked potentials during surgery and had no neurologic complications postoperatively. Three patients experienced evoked potential abnormalities. In one patient, 60 degrees external rotation of the foot produced significant SSEP changes. The reduction of rotation to 40 degrees resulted in tibial but not peroneal SSEP recovery. Peroneal nerve deficit was noted postoperatively. The second patient showed substantial SSEP attenuation after 45 degrees correction of distal tibial valgus. However, spontaneous recovery of the response occurred, which allowed maintenance of the achieved correction. In a third patient, significant SSEP changes occurred after 90 degrees external rotation and 10 mm medial translation of the distal femur. Total release of translation allowed 75 degrees external rotation without SSEP abnormalities. Neither of the latter two patients had peripheral nerve deficits postoperatively. Intraoperative SSEP monitoring thus helps to define a neurologically safe limit of acute deformity correction.

Background: Results of the Charnley-Williams method of intramedullary fixation for treatment of congenital pseudarthrosis of the tibia have varied, in part because of variations in surgical technique. The outcomes of three variations of this procedure were compared to determine which technique was the most likely to result in union. Methods: The results in twenty-three consecutive patients with congenital pseudarthrosis of the tibia were reviewed at four to fourteen years following initial surgical treatment with an intramedullary rod. Three types of procedures were performed: type A, which consisted of resection of the tibial pseudarthrosis with shortening, insertion of an intramedullary rod into the tibia, and tibial bone-grafting combined with fibular resection or osteotomy and insertion of an intramedullary rod into the fibula; type B, which was identical to type A except that it did not include fibular fixation; and type C, which consisted of insertion of a tibial rod and bone-grafting but no fibular surgery. The outcome was classified as grade 1 when there was unequivocal union with full weight-bearing function and maintenance of alignment requiring no additional surgical treatment; grade 2 when there was equivocal union with useful function, with the limb protected by a brace, and/or valgus or sagittal bowing for which additional surgery was required or anticipated; and grade 3 when there was persistent nonunion or refracture, requiring full-time external support for pain and/or instability. Results: Eleven patients (48%) ultimately had a grade-1 outcome; nine, a grade-2 outcome; and three, a grade-3 outcome. The final outcome was not associated with either the initial radiographic appearance of the lesion or the age of the patient at the time of the initial surgery. The results following type-A and B operations were better than those after type-C procedures. Surgery on an intact fibula resulted in a lower prevalence of grade-3 outcomes than was found when an intact fibula was not operated on (p = 0.05). Transfixation of the ankle joint by the intramedullary rod did not decrease the prevalence of grade-3 outcomes. Conclusions: There is little justification for a type-C operation, as it either resulted in a persistent nonunion or failed to improve an equivocal outcome in every case. Leaving an intact fibula undisturbed to maintain stability or length also was not successful in this series. In addition, the presence of fibular insufficiency (fracture or a pre-pseudarthrotic lesion) was highly prognostic for subsequent valgus deformity (occurring in ten of twelve cases), whether or not the fibula eventually healed.

Perioperative halo traction was used in the treatment of severe scoliosis in 19 children. Diagnoses included neuromuscular, idiopathic, and congenital scoliosis. Traction was transferable between the bed and a walker or wheelchair. Thirteen patients had prior spinal surgery, and most required osteotomy. Traction was used for 6 to 21 weeks. All patients underwent spinal fusion surgery after traction, with instrumentation used in 15 patients. Improvement was achieved in all patients. The Cobb angle improved 35% from an average 84° before traction (range 63°–100°) to 55° preceding fusion. Trunk decompensation improved in all patients. Trunk height increased 5.3 cm in traction. Response to traction did not correlate with diagnosis, patient age, or prior surgery. There were no neurologic complications. Perioperative halo-gravity traction improves trunk balance and frontal and sagittal alignment in children with severe spinal deformity. Surgical fusion was enhanced by the improved alignment, and neurologic injury was avoided.

The incidence and etiology of back pain during orthotic management of idiopathic scoliosis was determined for 303 patients treated from 1980 through 1990 for a minimum of 1 year. All patients denied back pain before orthotic prescription. Thirty-four (11%) patients reported back pain after institution of brace treatment. A family history of scoliosis (p = 0.014) and vigorous sports activities (p < 0.001) were correlated with pain. Seventeen of 34 patients with pain showed >10 degrees of curve progression during bracing, whereas 67 of 269 patients without pain progressed (p = 0.002). Four patients with pain and 11 without were eventually found to have an underlying pathology (spondylolysis/listhesis). No other underlying pathologies were found. Night pain or a left thoracic curve pattern were not correlated with a serious underlying etiology. Back pain occurring after institution of brace treatment for idiopathic scoliosis is often associated with curve progression and is poorly correlated with a serious underlying pathology.

A retrospective review was performed of 192 newborn hips in 112 patients referred for hip evaluation. The average age at presentation was 12.7 days, with average radiographic follow-up of 15.9 months. Inclusion criteria for our study were a normal physical examination of the hip without evidence of instability and an ultrasound examination that was considered abnormal. Pavlik harness treatment was chosen at the discretion of the treating physician. At final follow-up, dysplasia was defined as greater than two standard deviations above the mean acetabular index (AI) for age. Group I consisted of 43 hips that had Pavlik treatment, and group II consisted of 149 hips that did not receive treatment. There was no difference in these two groups with respect to risk factors for dysplasia or the initial abnormalities seen on ultrasound evaluation, although patients in group I had less coverage of the femoral head during stress maneuvers. No hip in group I and two (1.3%) hips in group II were considered dysplastic (AI > 2 SD) at final radiographic follow-up (p > 0.10). There was no correlation between the severity of the ultrasound abnormality at birth and the subsequent presence of dysplasia (p > 0.10). The two hips considered dysplastic on radiograph were not being actively treated. When the hip examination of a newborn hip younger than 1 month is normal, a screening ultrasound does not appear to predict accurately subsequent hip dysplasia. In this specific setting, an initial screening ultrasound may be too sensitive and does not appear warranted.

Twelve patients with healed congenital pseudarthrosis of the tibia underwent gait analysis and muscle strength testing to determine the functional result of treatment. Six children younger than 4 years of age presented with pseudarthroses (early onset), and six children first fractured at older than 4 years of age (delayed onset). Four children with amputations as final treatment for congenital pseudarthrosis were studied for comparison. The early-onset group had undergone an average of 4.2 surgeries and all required transankle fixation. The delayed-onset group had undergone an average of 1.5 surgeries, with one child requiring fixation across the ankle. Lack of ankle push-off and foot drop occurred in the early-onset group. Terminal stance phase ankle power generation was greatly diminished in the early-onset group. Total mechanical work performed by the affected limb, when compared to the uninvolved contralateral limb, was symmetric in delayed-onset patients and reduced by 68% in early-onset patients and by 85% in amputees. Gastrocsoleus strength was reduced by 40%. Gait and muscle strength of patients with "healed" congenital pseudarthrosis of the tibia are markedly disturbed. Early onset of disease, early surgery, and transankle fixation lead to an inefficient gait comparable to that of amputees.

Sir-The implication that true Blount’s disease can be diagnosed by measurement of the kvine-Drennan (1982) angle is erroneous, and if this has been the criterion by which Hagglund et al. (Acta Orthop Scand 1997; 68 (2): 167-169) have diagnosed this condition, then it is not surprising to find so much spontaneous resolution in Lund. The diagnosis of true infantile tibia vara requires the unequivocal presence of a characteristic radiographic lesion in the proximal medial tibia1 metaphysis and, without this radiographic sine qua non, one is looking at a case of physiological genu varum. While I agree that patients with large LD angles are at risk and must be followed, there is no indication for treatment prior to the appearance of an unequivocal Blount lesion, which is often present between 18-24 months. The patient illustrated in Figure 2 (p. 169) cannot be diagnosed as having infantile tibia vara based on the radiograph provided, and therefore the assertion that this patient’s Blount disease spontaneously resolved is not justifiable-his physiologic genu varum has resolved. In many reports from the US and the Caribbean, true Blount’s disease is a progressive and often frustrating deformity that should be corrected definitively, orthotically or surgically (Golding and McNeil-Smith 1963, Schoenecker et al. 1985, Femter and Shapiro 1987, Loder and Johnston 1987, Doyle et al. 1996). As pointed out (Loder and Johnston 1987), the Blount’s disease which we treat in the southern USA seems to have a worse prognosis than that described in Scandinavian reports (Langenskiold and Riska 1964), and therefore early treatment is indicated. If the Lund report of spontaneous resolution is to be believed, the authors will have to show radiographs of real Blount’s disease, rather than physiologic genu varum.

Four patients who had Larsen syndrome and cervical kyphosis were managed operatively and followed for an average of seventy months (range, forty to ninety-two months). The preoperative cervical kyphosis ranged from 35 to 65 degrees. The patients had had a posterior cervical arthrodesis alone when they were infants, at an average age of fourteen months (range, ten to sixteen months). In three infants, the kyphosis either stabilized (one patient) or reversed into lordosis (two patients). Thus, the kyphosis corrected gradually by continued anterior growth in the presence of a solid posterior fusion. In the fourth infant, the kyphosis progressed to 110 degrees because of pseudarthrosis. This child had anterior decompression and arthrodesis for an acute neurological deficit.We believe that cervical kyphosis is sometimes present but not diagnosed in patients who have Larsen syndrome. Early diagnosis followed by operative stabilization should help such patients avoid neurological deficits. Posterior cervical arthrodesis alone, performed in infancy, provided stability and the opportunity for the gradual correction of the deformity by continued anterior growth in three of our four patients.

A retrospective study of 2442 patients who had idiopathic scoliosis was performed to determine the prevalence of back pain and its association with an underlying pathological condition. Five hundred and sixty (23 per cent) of the 2442 patients had back pain at the time of presentation, and an additional 210 (9 per cent) had back pain during the period of observation. There was a significant association between back pain and an age of more than fifteen years, skeletal maturity (a Risser sign of 2 or more), post-menarchal status, and a history of injury. There was no association with gender, family history of scoliosis, limb-length discrepancy, magnitude or type of curve, or spinal alignment. At the latest follow-up evaluation, 324 (58 per cent) of the 560 patients who had had back pain at presentation had no additional symptoms. Forty-eight (9 per cent) of the 560 patients who had back pain had an underlying pathological condition: twenty-nine patients had spondylolysis or spondylolisthesis, nine had Scheurmann kyphosis, five had a syrinx, two had a herniated disc, one had hydromyelia, one had a tethered cord, and one had an intraspinal tumor. A painful left thoracic curve or an abnormal neurological finding was most predictive of an underlying pathological condition, although only eight of the thirty-three patients who had such findings were found to have such a condition. When a patient with scoliosis has back pain, a careful history should be recorded, a thorough physical examination should be performed, and good-quality plain radiographs should be made. If this initial evaluation reveals normal findings, a diagnosis of idiopathic scoliosis can be made, the scoliosis can be treated appropriately, and non-operative treatment can be initiated for the back pain. It is not necessary to perform extensive diagnostic studies to evaluate every patient who has scoliosis and back pain.

Twenty-three children who had unilateral surgery for idiopathic clubfeet underwent gait analysis and isokinetic muscle-strength testing at an average of 10 years after surgical release. Ankle sagittal-plane kinematics were disturbed in 20 clubfeet. Fifteen children had an internal foot-progression angle. Genu valgum and knee hyperextension were common. Plantarflexion power was decreased by 23% on the side of surgery (p = 0.00005). Quadriceps weakness (defined as a decrease in strength > 10% of the nonoperated-on limb's strength) was seen in nine of 22 operated-on limbs and hamstring weakness in eight of 22. Gastrocsoleus weakness exceeded 10% in 16 of 21 clubfeet. Average weakness of the gastrocsoleus was 27% (p< 0.05). Ten-year analysis of children treated with clubfoot releases revealed disturbances in ankle motion and strength. Loss of plantarflexion power and gastrocsoleus strength can be predicted by Achilles tendon lengthening. Knee kinematic abnormalities and weakness also were seen. These abnormalities produce functional difficulties in gait and may lead to degenerative changes later.

The outcomes of 47 patients, ranging in age from 7 months to 15 years, 8 months (average, 4 years, 8 months) with presumed pyogenic infectious spondylitis (so-called discitis) were evaluated retrospectively with regard to duration and recurrence of symptoms, and the need for readmission, retreatment, or surgical intervention. Among nonimmobilized patients, 18% (four of 22) receiving intravenous antibiotics, 50% (five of 10) receiving oral antibiotics, and 67% (four of six) receiving no antibiotics (analgesics and bed rest only) had either prolonged or recurrent symptoms or both. Among patients treated with spinal immobilization, one of five receiving concomitant intravenous antibiotics and two of two receiving no antibiotics had a recurrence of symptoms following discontinuation of immobilization. Two patients required surgical drainage of paraspinal abscesses (one cervical and one lumbar). These findings support the contention that so-called discitis is simply pyogenic infectious spondylitis in children and suggest that specific treatment with intravenous antibiotics is more likely to lead to rapid relief of symptoms and signs without recurrence.

In a series of 43 patients diagnosed with congenital anterolateral bowing of the tibia or congenital pseudarthrosis of the tibia treated between 1980 and 1992, the deformities corrected themselves spontaneously in five patients who had no other congenital abnormalities or evidence of neurofibromatosis. At an average follow-up of 58 months (average age at follow-up 80 months), the only residual deformity seen was a limb-length discrepancy in patients with unilateral involvement. In patients with subperiosteal callus formation on the posteromedial concavity of this deformity and an uninvolved fibula, no treatment appears necessary, as this deformity will spontaneously resolve.

The prevalence of curve progression was evaluated in 210 boys who had idiopathic scoliosis. A minimum age of eight years, a deformity of at least 10 degrees, and radiographic follow-up of one year or progression of the curve within the first year of follow-up were the criteria for inclusion in the study. Of the 210 patients, sixty-eight (32 per cent) had progression of 10 degrees or more. Four of the five patients who had had an initial curve of 50 degrees or more subsequently had a spinal arthrodesis. The risk of progression was significantly greater for patients who were at an earlier Risser stage (p < 0.002) and for those who were younger (p < 0.005). The risk of progression was also greater for patients who had had a larger curve at the time of presentation; of the sixty-three boys for whom the Risser grade was 1, 2, 3, 4, or 5 when they were first seen and who had a curve of 25 degrees or more, twenty (32 per cent) had progression, compared with only two (5 per cent) of the thirty-eight who had a Risser grade of 1, 2, 3, 4, or 5 and a curve of 24 degrees or less. Of the thirty-four patients for whom the Risser grade was 4 when they were first seen, five (15 per cent) had progression.(ABSTRACT TRUNCATED AT 250 WORDS)

From January 1982 to December 1987, 114 hips of 80 patients underwent pinning for treatment of slipped capital femoral epiphysis (SCFE). Three groups were differentiated based on the number of pins used. The average length of follow-up was 2 years 5 months. The mean time to physeal closure was 5.43 months in the single pin group, 5.54 months in the two pin group, and 6.44 months in the three or more pin group. These differences were not statistically significant. There was a statistically significant decrease in the rate of pin-related complications and reoperations in the single pin group as compared with the two pin and multiple pin groups. We conclude that central single pin fixation for treatment of SCFE dependably results in physeal closure while minimizing pin-related complications.

In twenty-five patients, the Pavlik harness failed to obtain or maintain reduction in thirty of thirty-five congenital dislocations of the hip. All of the patients had met the clinical criteria for use of the harness in our institution: they were less than seven months old, the femoral head pointed to the triradiate cartilage on anteroposterior radiographs that were made with the child wearing the harness, and they had no evidence of neuromuscular disease or teratological dislocation. These patients were compared with seventy-one patients (eighty-one dislocations) who had also been treated with the Pavlik harness and in whom a stable reduction was obtained and maintained. Statistically significant risk factors for failure of the harness included an absent Ortolani sign at the initial evaluation, bilateral dislocation, and an age of more than seven weeks before treatment with the harness was begun. All thirty hips in which the harness failed to obtain or maintain reduction had a subsequent attempt at closed reduction after preliminary Bryant traction. Fifteen of these hips were successfully reduced closed, but two later redislocated and needed an open reduction. The remaining fifteen hips needed an open reduction, and two redislocated and needed a second open reduction.

The relationship between initial spinal construct stiffness and the stiffness of the resulting fusion mass was studied by performing standardized 10-segment posterior spinal fusions in goats. Animals were divided into 5 groups based on type of spinal construct, using rods of different diameters (3.2 mm, 4.8 mm, 6.4 mm) with or without rigid crosslinking to produce constructs of different stiffnesses. Stiffness data on 28 animals were obtained by removing the spines en bloc, at 6 or 12 weeks postoperatively, and performing load-deformation testing in axial and torsional loading to determine the stiffness of the fusion masses (rods removed). The initial construct stiffnesses were also compared by ex vivo testing on spine specimens to correlate initial construct stiffness with eventual fusion mass stiffness. In axial testing, results showed stiffer fusion masses from larger diameter rod constructs compared with smaller rod constructs. This was similar to results of control testing on spine specimens ex vivo. Rigid crosslinking did not produce stiffer fusions in axial testing, due to a technical limitation of the button-wire implants used to segmentally fix the rods at each vertebra. In torsional testing, stiffer fusion masses resulted from using larger rods, and rigid Crosslinking also produced the stiffest fusion masses, which was consistent with ex vivo testing. In general, larger diameter (stiffer) rods produced stiffer fusion masses, and no evidence of stress shielding was found.