RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations.

A new malformation syndrome is described in a pair of sibs and 3 sporadic patients. The characteristic manifestations are radial aplasia or hypoplasia, absence of thumbs, absent or hypoplastic patellae, dislocations of joints, unusual face, cleft or highly arched palate, diarrhea in infancy, small stature, and normal intelligence. Recessive inheritance seems the most plausible cause. The acronym RAPADILINO syndrome is proposed.

Ten years' experience in patients with osteogenic sarcoma in Finland.

Ten years' results of 56 patients with high grade osteogenic sarcoma are reported. Fifty-two patients had M0 disease. Immediately after open biopsy the patients were treated with chemotherapy using modified Rosen's protocols T4, T7 and T10. The primary tumor was adequately removed in most patients. Six children were treated with limb saving. The actuarial and disease-free survival was 80% after 1 year, and 73% to 8 years. Two patients died because of toxic side effects of chemotherapy, one of septicemia, the other of late cardiac failure secondary to doxorubicin.

The spine in diastrophic dysplasia.

Diastrophic dysplasia is an autosomal recessive disorder of the skeleton, characterized by disproportionate short stature, generalized joint deformities, club feet, deformed ear pinnae, and, frequently, spinal deformity and cleft palate. Diastrophic dysplasia is more common in Finland than elsewhere. We studied 101 patients with an age range from newborns to 79 years to find out the frequency and type of spinal deformities, the early signs of progressive cases, and to follow the natural history of the disease. In the follow-up study, 17 patients were under 10 years, 21 under 21 years, and 63 over 21 years of age. One-third of the patients had cervical kyphosis; in the most severe case the kyphosis was 180 degrees and led to quadriplegia during anesthesia. In three patients, cervical kyphosis resolved spontaneously before the age of 5 years. The overall frequency of scoliosis was 37%; 49% in women and 22% in men. Only 13 patients had curves greater than 50 degrees; these curves constituted distinct rotation at the apex from the early evolution of the curve. The early signs of severe curves were detectable at the age of 2 to 4 years. Only two patients were operated on because of scoliosis; one with fusion in situ and the other instrumented with the pediatric Cotrel-Dubousset instrumentation. Three patients had a brace, which did not prevent the progression of the curve. Symptoms referring to a narrow spinal canal were registered in four patients, two of which were operated on; a lumbar posterior decompressive procedure was made at adult age.

Neonatal operative treatment of club foot. A preliminary report.

A total of 67 patients with 94 resistant club feet were treated operatively as soon after birth as all other postnatal problems could be excluded, the mean age of the patients being 12 days. No treatment was attempted before operation. The results, after a follow-up period of a minimum of two years (mean 4.4 years) are comparable with the best published results. This method of treatment has many advantages but cannot be recommended for general use without reservations.

Transient synovitis and Perthes' disease. Is there an aetiological connection?

A prospective study was made of 119 children with transient synovitis or any other cause for synovial effusion and elevated intra-articular pressure. During a follow-up of one year not one case of Perthes' disease was diagnosed and the late clinical and radiographic changes were minimal with moderate overgrowth of the femoral head in 33% and widening of the joint space in 14.2%. Our results do not support the widely accepted concept that Perthes' disease develops as a result of the period of elevated intra-articular pressure found in transient synovitis. Further research into this and Perthes' disease should follow the premise that they are two different diseases without any aetiological connection.

The management of primary acetabular dysplasia. Its association with habitual side-lying.

Fifty-one infants with limited abduction of the hip and acetabular dysplasia were, between 1969 and 1975, treated with abduction-adduction exercises, administered by the parents; no abduction devices were used. In 1983 a follow-up examination was carried out on 41 of these patients. Although at birth these children had characteristics similar to patients with congenital dislocation of the hip, none of their hips dislocated. At birth acetabular measurements showed that half the children had severe dysplasia and the other half slight dysplasia; the difference between the affected and the healthy hips was significant. At follow-up the gait was normal in all the patients. Movements at the hips were symmetrical and within normal limits in all but one patient. The acetabular angle, the centre-edge angle, the shaft-neck angle, the hip ratio, and the size of the femoral head were the same on the previously affected side as on the normal side. Nineteen of the children followed up had preferred lying on one side and dysplasia of the upper hip had developed. The significance of the sleeping position on the development of acetabular dysplasia is discussed.

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.

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.

Remodelling by asymmetrical epiphysial growth. An experimental study in dogs.

Spontaneous correction of deformity is produced by bone remodelling during the period of growth. The purpose of this experimental study was to find out in which phase and to what extent asymmetrical epiphysial growth participated in the correction of an experimentally produced deformity. Transverse wedge osteotomy was performed in the legs of twenty growing mongrel dogs, the fragments being fixed with bent AO-plates. From radiographs taken at intervals of two weeks the epiphysial and axial angles were measured. Nine dogs were given tetracycline ten to twenty days before death and the cut surfaces were photographed in reflected ultra-violet light. It was found that epiphysial growth played an important role in the remodelling process. This factor accounted for roughly half of the total correction and averaged 12-5 degrees during the observation time of 160 days. The greatest correction occurred during the first weeks. Correction of the epiphysial angle took place with acceleration of growth.

Development of the hip in diastrophic dysplasia.

We examined 50 patients with diastrophic dysplasia both clinically and radiologically. Two legally aborted fetuses were dissected. The mean age of the patients was 16.2 years (newborn to 38) and the mean follow-up was 11.4 years (3 months to 34 years). The fetal hips and MRI of newborn infants showed congruity and no significant joint deformity. Flexion contracture of the hip became evident later in 93% and was progressive. The radiological appearance of the proximal femoral ossific nuclei was delayed and in 17% of males and 28% of females the ossific nuclei had not appeared by the age of 12 years. Radiological measurements differed considerably from reference values and were related to the rapid and progressive restriction of rotational movement and the increase in flexion contracture. The typical findings were flattening and inferomedial bulking of the femoral head and a double-hump deformation. The changes in the hip led to secondary osteoarthritis before early middle age. We describe the clinical and radiological measurements which define the early degeneration of the joint.

Arthrogryposis multiplex congenita: perinatal and electromyographic findings, disability, and psychosocial outcome.

Fifty-two patients with arthrogryposis multiplex congenita were followed up for 1 to 36 years. There were six twin pregnancies, and delivery was complicated by breech position in 16 cases. In 19 cases the cause was atrophy of the alpha motoneurons of the spinal cord, detected by electromyography. Six patients did not achieve walking ability. Severe disability for other reasons was noted in two patients who had bilateral rigid extension contractures of the elbows and in six patients whose spinal deformities interfered with the balance of the trunk. Treatment of flexion contractures of the hips and knees seemed to be important in case it promotes the walking ability. Spinal deformities interfering with the balance of the trunk should be treated operatively. Restoration of elbow flexion was the main goal in operative treatment of the upper extremities. The intelligence of the patients was slightly above normal. The psychological analysis revealed significant diverging features compared with average population in testing situation. Socially the patients seemed to cope well.

Treatment of congenital dislocation of the hip after neonatal diagnosis.

During 1966-1975, 920 infants with a congenital dislocation of the hip diagnosed neonatally were born in Uusimaa county in southern Finland. The first examination of the hips was made by a pediatrician, but the diagnosis was generally confirmed by a pediatric surgeon before treatment was started. The mean age of beginning treatment was 7 days. An abduction pillow was the only treatment in 852 cases, six of whom later developed complications, notably two with avascular necrosis. The duration of the pillow treatment shortened noticeably during the time under review but this caused no increase in the number of failures. In 64 cases the routine pillow treatment could not be carried through, mostly because the hip dislocated on the pillow. The most apparent reason for this was inappropriate control of the pillow by the parents. In this group bilateral dislocations and associated calcaneovalgus feet were found more often than in the rest of the neonatal group. Non-operative treatment was successful in 96 per cent of the 920 cases.

Hyperpressure in juvenile hip disease.

Intra-articular pressure was measured in 94 hips in 81 children with Perthes' disease and various forms of synovitis of the hip. The pressure was elevated in Perthes' disease (3.4 kPa), transient synovitis (17.3 kPa), septic arthritis (20.2 kPa), reactive arthritis (28.0 kPa) and arthritis with urticaria (32.3 kPa). In transient synovitis the mean pressure was only 2.3 kPa in flexion, while a mean of 26.6 kPa was seen in the neutral position and in internal rotation. In children with synovial effusion of the hip, the position of immobilisation should therefore be in flexion of 30-45 degrees with slight external rotation. The neutral position or extension, even with simultaneous traction, may endanger the circulation of the femoral head.