Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism.

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of connective tissue characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the soft tissues in specific anatomic and temporal patterns. We observed classic findings of FOP in 2 Native American half-sisters with the same unaffected mother and different unaffected fathers. This is the first report of FOP in sibs from different pregnancies with unaffected parents. The findings in this family indicate the possibility of maternal gonadal mosaicism in FOP and provide important new data for genetic counseling in this disease.

One-stage treatment of congenital dislocation of the hip in children three to ten years old. Functional and radiographic results.

We reviewed the results of operative treatment of congenital dislocation of the hip in eighteen children (twenty-five hips) whose average age at the time of the index operation was six years and four months (range, three years to nine years and eleven months). None of the patients had had previous treatment of the dislocation. Preliminary traction was used for five patients (six hips), and open reduction and femoral shortening was performed in all hips. The functional result was assessed, according to the Iowa hip-rating system, after an average duration of follow-up of ten years and six months (range, six years and two months to sixteen years and ten months). Sixteen hips had an excellent result; seven, a good result; and two, a fair result. The average limb-length discrepancy was 0.8 centimeter (range, zero to four centimeters), and the average foot-progression angle was 11 degrees (range, 0 to 30 degrees) of external rotation. According to Severin's classification of the radiographic appearance, seven hips had an excellent result; eleven, a good result; four, a fair result; and three, a poor result. Four of eleven hips that had evidence of osteonecrosis of the proximal part of the femur had a severe deformity, and one patient had radiographic evidence of moderate degenerative osteoarthrosis when she was sixteen years old. On the basis of this review, we suggest that a one-stage operative procedure consisting of open reduction, femoral shortening, and pelvic osteotomy (if necessary) for previously untreated congenital dislocation of the hip in children who are three to ten years old can result in remodeling of the acetabulum and a functional hip.

Chondro-osseous growth abnormalities after meningococcemia. A clinical and histopathological study.

The cases of nine children who survived the acute stage of meningococcal septicemia and secondary disseminated intravascular coagulation were reviewed. All of the children had major orthopaedic problems as a result of the acute disease. Detailed histological studies were performed on specimens of bone and cartilage, obtained when these patients had either acute amputation for gangrene or subsequent revision for a chondro-osseous deformity. In the specimens that were obtained from the children who had acute gangrene, the histological changes included small-vessel thrombi, osteonecrosis, subperiosteal new-bone formation, cortical disruption, cellular disorganization in the physis, and medullary inflammation. These findings were compatible with a combination of inflammation (acute osteomyelitis) and ischemia. In the specimens that were obtained during revision of the amputation, three years or more after the initial infectious or ischemic process, the clinically relevant findings involved the epiphyses and physes. The growth plates showed variable permanent ischemic damage. Bone bridges connecting the epiphysis and metaphysis were observed in various stages of formation, including several early bridges with involvement of only the physis and metaphysis. Endosteal and cortical bone, in contrast, showed complete recovery with no evidence of permanent ischemic damage. We concluded that children who survive meningococcal septicemia are at high risk for complex orthopaedic problems, both acute and chronic. The disseminated intravascular coagulation and focal infections of the acute phase are primarily responsible for the vascular injuries to the growing chondro-osseous tissues. Ischemic changes also selectively involve the physeal circulation, but may take several years to adversely affect longitudinal and transverse growth of bone.

Intra-articular hip arthrodesis without subtrochanteric osteotomy in adolescents: technique and short-term follow-up.

Twenty-five patients, 11 to 19 years in age, were treated with hip arthrodesis for an incapacitating painful and stiff hip. Clinical diagnoses included avascular necrosis (AVN) associated with slipped capital femoral epiphysis (SCFE) (7 patients), posttraumatic AVN (6), septic arthritis (4), complication of treatment of developmental dysplasia of the hip (DDH) (4), pathologic fracture of femoral neck through bone cyst with resulting AVN (2), Perthes disease (1), and idiopathic chondrolysis (1). Preoperative motion was minimal or absent in 13 patients, limited in 12, and very painful in 23 patients. A two-incision surgical approach was utilized, providing for an intra-articular fusion technique and internal fixation with precise positioning. The surgical technique described avoids any dissection of the hip abductor musculature or a deforming osteotomy of the proximal femur. Twelve complications occurred in 10 patients, 9 of which required additional operative treatment. At an average postoperative follow-up of 6 years, 10 months, the overall activity level was greatly increased over the preoperative activity level secondary to the relief of pain. Hip arthrodesis is the acceptable salvage procedure for the otherwise healthy, active adolescent or young adult with unilateral hip disease characterized by incapacitating pain and/or an unacceptable fixed position.

The role of fibular osteotomy in rotational osteotomy of the distal tibia.

A randomized prospective study was undertaken to assess the role of fibular osteotomy in distal tibial derotational osteotomies. Thirty-five patients were randomized to "intact fibula" and "osteotomized fibula" groups. There were no statistically significant differences in the amount of intraoperative derotation, time to weight bear, time to healing, and the amount of correction retained at follow-up between the two groups. Complications in the intact fibula group included one delayed union and one recurrence. In the osteotomized fibula group, there were two cases of loss of fixation, two pin-tract infections, one delayed union of tibia, one pressure sore in the cast, one distal tibial physeal arrest, and one recurrence. Although the difference in the complication rate between the two groups did not reach statistical significance, our results suggest that in distal tibial derotational osteotomies, fixed with cross pins, it might be advantageous to leave the fibula intact.

Long-term results of valgus osteotomy for congenital coxa vara.

Twenty hips (12 patients) with congenital coxa vara, treated with valgus subtrochanteric osteotomy, were reviewed retrospectively. The average Hilgenreiner-epiphyseal (HE) and head-shaft (HS) angles at the initial evaluation were 66 degrees and 96 degrees, respectively. The average postoperative follow-up time was 20 years. Five of the 12 hips with trochanteric overgrowth had abductor weakness. A postoperative HE angle of 35 degrees or less and a HS angle of 130 degrees or more was correlated with consistently satisfactory results.

Resection for symptomatic talocalcaneal coalition.

Over a 10-year period, 20 persistently symptomatic talocalcaneal tarsal coalitions were treated with resection. These cases were reviewed at an average of 29 months after treatment. Preoperative computed tomography (CT) scans were obtained in 17 of 20 feet. Good or excellent clinical results were obtained in 77% of patients with resection of coalitions involving one third or less of the total joint surface. Increasing age in this group was not a contraindication to surgery. Four patients had an uncommon varus deformity and were treated with resection. Overall this subgroup had a poorer prognosis.