Nonspinal orthopaedic problems in familial dysautonomia (Riley-Day syndrome).

Familial dysautonomia (FD) is a rare autosomal recessive disease occurring in Ashkenazi Jews. It affects the autonomic, central, and peripheral nervous systems. The purpose of this study was to assess the prevalence and characteristics of orthopedic deformities, other than spinal deformities, in this population. A retrospective review of the medical records and radiographs of 182 patients was made. Three main groups of orthopaedic conditions were evaluated: (a) Fractures: 60% of the patients had one or more fractures; the average fracture rate was 1.4/patient. (b) Neuropathic joints: 11% of the cases had one or more neuropathic joints, the knee being the most common. (c) Other musculoskeletal deformities: 26% of the patients had one or more deformities. Lower extremity rotational problems and foot anomalies accounted for most of these deformities. Patients with FD have a higher prevalence of fractures and neuropathic joints than do their peers. The fracture pattern also is different, with a higher incidence of proximal femoral fractures.

Distal radius epiphysiolysis associated with scaphoid fractures in immature patients: report of two cases and review of the literature.

Two cases of carpal scaphoid fractures associated with distal radius epiphysiolysis are presented. Only three cases of this unlikely combination were found in the English literature. One of the scaphoid fractures had to be confirmed by bone scan. Conservative treatment after gentle reduction of the radius fracture gave excellent results.

Spinal deformity in familial dysautonomia. Prevalence, and results of bracing.

BACKGROUND: Familial dysautonomia (Riley-Day syndrome) is an autosomal recessive disorder primarily affecting individuals of Ashkenazi Jewish extraction. It affects the autonomic, central, and peripheral nervous systems. Spinal deformity (mainly scoliosis) is the most common orthopaedic problem in patients with familial dysautonomia. The objectives of our study were to document the prevalence of spinal deformity in a referral center for familial dysautonomia and to determine the effectiveness of bracing. METHODS: We performed a retrospective radiographic and clinical study of 123 patients with familial dysautonomia who had survived to the age of twenty years or older. RESULTS: One hundred and two (83 percent) of the 123 patients had spinal deformity: sixty-nine (56 percent) had scoliosis only, thirty-one (25 percent) had scoliosis as well as kyphosis, and two (2 percent) had kyphosis only. Scoliosis was diagnosed by the age of ten years in sixty-four (52 percent) of the patients. Of the sixty-five patients who were treated with bracing, fifty-eight (89 percent) had progression and twenty-four (37 percent) underwent spinal arthrodesis. No risk factors for the presence or progression of the curves could be found. CONCLUSIONS: The prevalence of spinal deformity in patients with familial dysautonomia who had lived for at least twenty years was found to be 83 percent. By the age of ten years, 52 percent of the patients had scoliosis and 21 percent had kyphosis with or without scoliosis. Bracing was found to be of limited effectiveness as a definitive treatment for spinal deformity. The curve progressed despite bracing in fifty-eight (89 percent) of sixty-five patients.

Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta.

STUDY DESIGN: A cross-sectional radiologic and clinical study of patients with osteogenesis imperfecta. OBJECTIVES: To determine whether pulmonary compromise is more closely correlated with scoliosis, kyphosis, or chest wall deformity in the population with osteogenesis imperfecta, and to assess the impact of spinal deformity, chest wall deformity, and pulmonary function on quality of life. SUMMARY OF BACKGROUND DATA: The incidence of scoliosis in osteogenesis imperfecta is between 39% and 80%. Up to 60% of patients with osteogenesis imperfecta have significant chest wall deformities. Pulmonary compromise is the leading cause of death in adults with osteogenesis imperfecta. METHODS: Fifteen patients with osteogenesis imperfecta between the ages of 20 and 45 were evaluated with sitting or standing anteroposterior and lateral radiographs of the entire spine, pulmonary function testing, and a validated health self-assessment questionnaire (Short Form-36). Radiographs were evaluated for thoracic scoliosis, thoracic kyphosis, and chest wall deformity. Correlation analysis was performed. RESULTS: Thoracic scoliosis was strongly correlated with decreased predicted vital capacity (r = -0.76). Significant diminution in vital capacity below 50% occurred at a curve magnitude of 60 degrees. Kyphosis and chest wall deformity were not predictive of decreased pulmonary function. Physical health (PCS) was closely correlated with predicted vital capacity (r = 0.65; P < 0.01) and with scoliosis (r = -0.52; P < 0.05). CONCLUSIONS: Thoracic scoliosis of more than 60 degrees has severe adverse effects on pulmonary function in those with osteogenesis imperfecta. This finding may partly explain the increased pulmonary morbidity noted in adult patients with osteogenesis imperfecta and scoliosis compared with that in the general population.

Epiphyseal growth after pinning of slipped capital femoral epiphysis.

Seventy-seven hips in 61 patients (mean age, 13 years) with slipped capital femoral epiphysis treated with in situ pinning were retrospectively evaluated to determine the frequency and magnitude of epiphyseal growth after pinning. Threaded Steinmann pins, Knowles pins, and cannulated screws were used. Evidence of the epiphysis "growing off" the pins was seen in 29 and 18% of the hips treated with Steinmann and Knowles pins, respectively. No hips with cannulated screws continued to grow after surgery. The use of one cannulated screw in the treatment of mild and moderate slipped capital femoral epiphysis is recommended.

The severely unstable hip in cerebral palsy. Treatment with open reduction, pelvic osteotomy, and femoral osteotomy with shortening.

The results in thirty-one patients with cerebral palsy who had a total of thirty-five severely subluxated or dislocated hips were analyzed retrospectively a mean of seven years after open reduction, pelvic osteotomy, varus rotational osteotomy, and femoral shortening. Preoperatively, twenty-two patients had been unable to stand and thirteen had had pain; the mean acetabular index was 50 degrees, the mean center-edge angle was -19 degrees, and the mean migration index was 74 percent. At the latest follow-up examination, none of the hips were painful. Seven patients had an improvement of one level in their walking ability. All of the patients who were confined to a wheelchair had better sitting balance. The mean acetabular index was 40 degrees, the mean center-edge angle was 18 degrees, and the mean migration index was 25 percent. Four hips were subluxated (two of them posteriorly). One hip was treated with a repeat varus rotational osteotomy. Another hip, which was not dislocated, had a rotational osteotomy for excessive femoral anteversion. Eight femoral heads displayed signs of avascular necrosis. One tibial and two femoral fractures occurred after the cast was removed. Three of the four patients who had a subluxated hip had scoliosis. The combined approach improved coverage of the femoral head and decreased pain in the hip. Even though this procedure can be accompanied by serious complications, we believe that the results justify this extensive approach in these patients.

Femoral anteversion and neck-shaft angles in hip instability in cerebral palsy.

A consecutive sample of 411 hip roentgenograms in 215 patients with cerebral palsy was evaluated. Femoral anteversion and neck-shaft angles were measured and compared with hip stability indexes to determine which of the two angles is more important in hip instability. The correlation coefficients were higher and statistically significant for femoral anteversion and lower and statistically nonsignificant for neck-shaft angles. These findings suggest that increased femoral anteversion has greater correlation than increased coxa valga with hip instability in cerebral palsy patients and therefore should be addressed primarily when surgically treating these hips.

Femoral torsion and neck-shaft angles in cerebral palsy.

Excessive femoral and coxa valga have been reported to be major contributors leading to hip dislocation in patients with cerebral palsy (CP). Femoral torsion angle (FT) and neck-shaft angle (NSA) were measured by the radiographic technique described by Rippstein and Müller in 157 patients with CP (289 hips). Factors associated with the degree of FT and NSA were evaluated. The researchers explored the correlation between the two angles and hip pathology. A large database of measurements was constructed. Our findings suggest that age and ambulatory status are the main factors correlated with FT and NSA.

Cerebral palsy in twins.

Eighty-six children with cerebral palsy (CP) born as a product of twin pregnancies were studied. Data regarding their co-twins were also gathered. The authors' findings suggest that (1) monozygotic twins have a higher risk of CP than dizygotic twins, (2) twin order at birth does not seem to be a relevant factor in the etiology of CP, (3) mothers less than 24 or more than 34 years of age had the highest incidence of children with CP as a product of a twin pregnancy, and (4) the data do not support a genetic basis for the disease.