A newly described hereditary cartilage debonding syndrome.

OBJECTIVE: We describe a hereditary chondropathy characterized by extreme cartilage friability and cartilage-bone debonding, which has not previously been described in the literature. We also describe initial studies into the molecular basis of this disorder. METHODS: Affected family members had multiple shoulder, hip, and knee arthropathies, beginning in the pre-teen years and continuing into adulthood. Various diagnoses had been suggested, including spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, Legg-Calvé-Perthes disease, and Osgood-Schlatter disease. The affected proband father, his 3 affected children, and unaffected family members provided blood samples, which were examined for single-nucleotide polymorphisms (SNPs) in the chromosome 2 region that included the Frizzled-related protein gene, a soluble Wnt protein signaling antagonist that influences bone and cartilage development. RESULTS: All affected individuals showed clear similarities, including effusions, large loose bodies, and bubbling and delamination of the cartilage with exposure of subchondral bone. All affected individuals exhibited radiographic changes in the hip, showing femoral head flattening and secondary degenerative arthritis, accompanied by abnormalities in the physical properties of the cartilage that were evident upon arthroscopic examination. Two SNPs were identified in subjects with the hereditary cartilage debonding syndrome. Examination of the siblings and parents of the proband demonstrated, however, that both SNPs were present in the unaffected mother and in 2 of 4 unaffected siblings of the proband. CONCLUSION: The clinical findings reported here represent a newly defined clinical syndrome characterized by marked cartilage friability and osteochondral debonding. Because the SNPs are present in the general population, and because unaffected members of this family carry the SNPs, these polymorphisms alone are insufficient to result in the observed phenotype.

Closed reduction for congenital dysplasia of the hip. Functional and radiographic results after an average of thirty years.

The functional and radiographic results of closed reduction in 152 congenitally dislocated hips of 119 patients who had been managed between 1938 and 1969 were reviewed retrospectively. The average age of the patients at the time of the reduction was twenty-one months (range, one to ninety-six months). At the time of the latest follow-up evaluation, the average age was thirty-one years (range, sixteen to fifty-six years). The average duration of follow-up was thirty years (range, fifteen to fifty-three years). At the latest follow-up evaluation, the Iowa hip rating averaged 91 points (range, 38 to 100 points) and the Harris hip score averaged 90 points (range, 33 to 100 points). Thirty-five hips were rated Severin Class I; thirty-five, Class II; twenty-eight, Class III; fifty-three, Class IV; and one, Class VI. Disturbance of growth in the proximal end of the femur occurred in ninety-one hips (60 per cent). Eight contralateral hips that had appeared normal also demonstrated disturbance of proximal femoral growth. In many hips, partial physeal arrest could not be determined for ten to twelve years after the reduction. Seventeen hips (twelve patients) had a total replacement when the patients were an average age of thirty-six years (range, nineteen to fifty-three years). Sixty-five hips (43 per cent) had radiographic evidence of degenerative joint disease. Patients who did not have a growth disturbance of the proximal end of the femur or evidence of subluxation tended to function extremely well for many years despite a radiographic result that was less than anatomical. Function tended to deteriorate with time, even in the absence of disturbance of growth in the proximal end of the femur. Despite generally good function at the latest follow-up evaluation, the prognosis for these patients remained guarded.

Two siblings with Tel Hashomer camptodactyly and mitral valve prolapse.

A brother and sister with Tel Hashomer camptodactyly and mitral valve prolapse are described. Mitral valve prolapse is heterogenous, but appears to occur more frequently in individuals with connective tissue disorders. The presence of mitral valve prolapse as a component manifestation of Tel Hashomer camptodactyly suggests that abnormal connective tissue is a pleiotropic effect of the mutant allele.

Ankle dislocation without fracture.

Dislocation of the ankle without accompanying malleolar fracture has been regarded as a rare lesion, with few cases reported in the literature. To date, there has been no precedent for accurate descriptions of the mechanisms, optimum treatment, and long-term prognosis of this injury. Our goal was to evaluate these variables by a retrospective review of cases from our institution. We identified eight patients who had sustained ankle dislocation without fracture and were treated at the University of Iowa during the period 1958 to 1986. We interviewed and examined each patient and obtained ankle radiographs at an average of 11.5 years postinjury (range 2 to 24 years). After analyzing our cases and other reported in the literature, we have found that this injury is most common in young people (average age 31 years, range 10 to 73 years) and males (72%), and occurs most frequently in falls, motor vehicle accidents, and sports (86%). Medial displacement occurs most frequently (27%). Disruption of the mortise occurs variably. The most likely mechanism appears to be anterior or posterior extrusion of the talus from the mortise secondary to a force applied to the plantarflexed foot. Final displacement is then determined by the position of the foot and the direction of the force applied. Physical findings are commensurate with the deformity. Neurovascular compromise is uncommon (10%). Closed reduction is almost invariably accomplished easily unless the deformity is accompanied by posterior tibiofibular dislocation. Optimum treatment appears to be immobilization in a short leg cast for 6 weeks with no weightbearing for the first 3 weeks. Long-term follow-up revealed the following. Results were all good to excellent considering the following variables: return to work and sports activities, pain, instability, swelling, and ankle and subtalar joint motion. No patient reported instability and all returned to work and sports participation. We noted mild pain and swelling that was not severe enough to require medication in 25% of patients. Range of motion was normal in all but four patients; none of these lacked more than 10 degrees of motion in any plane. Radiographic abnormalities consisted of minor ligamentous or capsular calcification in all patients, small osteophytes in four patients, and minimal joint space narrowing in one patient. No patient had normal radiographs.

Proximal tibial osteotomy. Factors that influence the duration of satisfactory function.

Survival analysis studies of 40 patients treated with high tibial osteotomy for arthritis with angular deformity were performed to determine the dominant factors that adversely affected long-term knee function. Obesity, advanced age, and postoperative overcorrection or undercorrection resulted in short durations of successful function. On the average, the probabilities for continued useful function of the knee at tested intervals were: one year, 86%; three years, 64%; five years, 50%; and nine years, 28%.