Cases reported "Joint Instability"

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11/30. Clinical and genetic heterogeneity in Desbuquois dysplasia.

    Desbuquois dysplasia is a rare chondrodysplasia of autosomal recessive inheritance characterized by short stature, joint laxity, facial anomalies, a "Swedish key" appearance of the proximal femur, and advanced carpal and tarsal bone age. patients with Desbuquois dysplasia can be divided in two groups, depending on whether hand changes include an extra ossification center distal to the second metacarpal and whether phalangeal dislocations are present or absent. We have recently reported linkage of a Desbuquois dysplasia gene to 17q25.3 in a group of patients with typical hand abnormalities. Here, we report on the exclusion of the 17q25.3 locus in three inbred Desbuquois families originated from turkey, asia, and morocco without typical hand abnormalities. Microsatellite dna markers from the 17q25.3 region were used at an average spacing of 2 cM, and the three affected individuals from families 1 to 3 were heterozygous for the 17q25.3 region. These results allow us to exclude this region as the locus in Desbuquois families with no hand anomalies and demonstrate genetic heterogeneity. Ongoing studies will hopefully lead to the identification of the responsible genes.
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12/30. The von Rosen splint compared with the Frejka pillow. A study of 408 neonatally unstable hips.

    101 children in Tromso, norway, treated with the Frejka pillow for 4.5 months because of neonatal hip instability (NHI) were compared with 307 children in Malmo, sweden, treated with the von Rosen splint for 3 months. The pelvic radiographs, taken when the treatment was terminated, were assessed by the acetabular index (AI) and the cases of failure were evaluated. The AI showed no difference between the two groups. The Frejka group had 4 patients who received further treatment because of remaining acetabular dysplasia and/or subluxation while the von Rosen group had none. The difference in risk of failure might partly be explained by different criteria for failure.
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13/30. The arthroscopic appearance of a normal anterior cruciate ligament in a posterior cruciate ligament-deficient knee: the posterolateral bundle (PLB) sign.

    Partial anterior cruciate ligament (ACL) tears that result in functional instability are usually the result of a deficiency of the anteromedial bundle (AMB), and are evident arthroscopically by a prominent posterolateral bundle (PLB). As double-bundle ACL reconstructions are being suggested to recreate a more normal anatomy, the roles of each bundle are being more critically questioned. We present a case that describes the appearance of a normal ACL in a posterior cruciate ligament (PCL)-deficient knee in which the PLB of the ACL is prominent, giving the appearance of a complete tear of the AMB of the ACL, and scarring of this bundle to the PCL stump. On further inspection, and when the tibia was reduced, the normal appearance of the ACL returned, with visualization of the AMB obscuring the PLB. We have named this arthroscopic finding the "PLB sign." This finding confirms the individual roles of each bundle of the ACL. It is important to not misinterpret this abnormal appearance of the ACL as a partial ACL tear in a PCL-deficient knee.
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14/30. [Primary Ilizarov ankle fusion for nonreconstructable tibial plafond fractures]

    OBJECTIVE: ankle arthrodesis in a plantigrade position. In high-energy open injuries with segmental bone loss: proximal tibial metaphyseal corticotomy with distal Ilizarov bone transport for compensation of leg length discrepancy. INDICATIONS: Posttraumatic loss of the tibial plafond, usually resulting from open fracture type IIIC. CONTRAINDICATIONS: Ipsilateral foot injuries impairing ambulation after fusion. Severe injury to the posterior tibial nerve with absent plantar sensation. Soft-tissue injury not manageable surgically. Inadequate patient compliance. Advanced age. Severe osteoporosis. Acute infection. SURGICAL TECHNIQUE: Standard technique: anteromedial longitudinal incision. Removal of remaining articular cartilage. Passing of Ilizarov wires through the distal fibula, talar neck and body. Placement of 5-mm half-pins through stab incisions, perpendicular to the medial face of the tibial shaft. A lateral to medial 1.8-mm Ilizarov wire in the proximal tibial metaphysis is optional. Callus distraction/Ilizarov bone transport: exposure through an anteromedial incision or transverse traumatic wound. Removal of small residual segment of tibial plafond blocking transport. Retain small vascularized bone fragments not blocking transport. For Ilizarov external fixation, two rings in the proximal tibial region. Drill osteoclasis of the tibial metaphysis 1 cm distal to the tibial tuberosity and complete with Ilizarov osteotome. Secure the Ilizarov threaded rods or clickers. Weight bearing as tolerated. Begin distraction 14 days after corticotomy at a rate of 0.5-1 mm per day depending on patient's age. After docking: Ilizarov ankle arthrodesis. RESULTS: Between January 1993 and September 1996, four patients (two men, two women) with severe, nonreconstructable fractures of the tibial plafond were treated. Callus distraction and Ilizarov bone transport in three patients. Age range 19-68 years (average age 45.7 years). Mean follow-up 6.6 years (4 years 9 months to 7 years 4 months). Average duration of the entire treatment in external fixation 54.4 days/cm for the three bone distraction patients. Mean transport 6 cm (4.5-8.5 cm). One patient required repeat ankle arthrodesis.
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15/30. ehlers-danlos syndrome: insights on obstetric aspects.

    ehlers-danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by joint hypermobility, skin hyperelasticity, tissue fragility, easy bruising, and poor healing of wounds. The clinical manifestations vary depending on the type of disease. The syndrome may be associated with a number of pregnancy and peripartum complications. Because of the multiorgan involvement and varied presentation of this disease, no uniform or routine obstetric and anesthetic recommendations can be made for the perinatal care of these patients. We present a review of the literature on EDS with emphasis on the obstetric, anesthetic, and perinatal consequences. We also report our experience with this syndrome: an uneventful term vaginal delivery in a 32-year-old woman diagnosed with hypermobility type of EDS. TARGET AUDIENCE: Obstetricians & Gynecologists, family physicians. learning OBJECTIVES: After completion of this article, the reader should be able to recall the potentially severe nature of ehlers-danlos syndrome (EDS) in both pregnant and nonpregnant patients, summarize the wide range of signs and symptoms and its genetic inheritance, and explain the difficulty in recommending obstetric and anesthesia procedures to avoid complications.
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16/30. Radioulnar joint fusion for distal radioulnar joint instability.

    Each one of this small group of patients illustrates a rare indication for the radioulnar joint fusion procedure in distal radioulnar joint instability. The case histories tell of a last ditch effort to salvage function in an extremity crippled by painful radioulnar instability after excision of the distal ulna. The fusions healed slowly and two required repeat surgery to achieve union. Today we would routinely add iliac bone graft to the fusion area to hasten healing. Rarely indicated, this is a salvage procedure that is done after failure of other procedures geared to preserve the rotation of the forearm. These patients all had successful salvage of their extremities for activities of daily living, but only one returned to his labor job. All were worker's compensation cases in physical jobs. Two patients had had prior radiocarpal fusions, making them even more restricted in function. This procedure should be kept in mind to be used in the rare cases of painful instability of the distal radioulnar joint when traditional motion-preserving procedures have failed.
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17/30. Os odontoideum with posterior atlantoaxial instability.

    Nine patients who had os odontoideum with posterior atlantoaxial instability are reviewed. Three parameters were measured on the lateral radiographs: the distance from the os odontoideum to the spinous process of the axis in extension (Dext), the distance from the os odontoideum to the posterior arch of the atlas (Datl), and the degree of instability (Inst). patients were classified into four groups: Group I, local symptoms (N = 3); Group II, transient myelopathy (N = 0); Group III, progressive myelopathy (N = 6); and Group IV, cerebral symptoms (N = 0). The development of cervical myelopathy was not related to degree of instability but to distance from the os to the spinous process of the axis (Dext). Dext was more than 16 mm in Group I and less than or equal to 16 mm in Group III. Five of six patients in Group III underwent myelography. Based on myelographic findings, Group III was further subdivided into two groups, Group IIIA (N = 2) and Group IIIB (N = 3), according to the following characteristics: In Group IIIA, the distance from the os to the posterior arch of the atlas was more than 13 mm, and the spinal cord was impinged between the os odontoideum and the lamina of the axis in extension and reduced in flexion. In Group IIIB, Datl was less than or equal to 13 mm, and the spinal cord was compressed at the level of the atlas during flexion and extension. Stenotic Datl of 13 mm or less specifically defined severe cervical myelopathy. Surgical treatment for cervical myelopathy in os odontoideum with posterior instability is suggested as follows: in the absence of canal stenosis of the atlas (Group IIIA), atlantoaxial fusion in a reduced position is indicated; when associated with canal stenosis of the atlas (Group IIIB), laminectomy of the atlas followed by occiput-to-C2 arthrodesis is indispensable.
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18/30. The significance of genetic contributions and markers in disorders of spinal structure.

    Clinical evidence suggests that a moiety of patients with low back syndrome refractory to conventional treatment may embody a pleiotropic expression of Marfan-like pathology of support tissue. Individuals in the suspect group display a triad of clinical findings including refractory low back syndrome, certain dural ectasias, and a susceptibility to protracted reactions after lumbar puncture. Certain stigmata found in these patients and their families are among those commonly seen in Marfan's disease. The concept, if valid, has important implications affecting therapeutic choices and may offer insights into unexplained failures. The finding of significant family involvement strengthens the possibility of a heritable substratum for this category of low back disease.
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19/30. A subluxing arthropathy associated with the anti-Jo-1 antibody in polymyositis/dermatomyositis.

    Of 180 patients with polymyositis/dermatomyositis (PM/DM) seen at the University of Pittsburgh and affiliated hospitals since 1975, 21 of 100 tested positive for the anti-Jo-1 antibody. Sixteen of the 21 patients were women and 18 were white. Fifteen had adult PM, 4 had myositis in overlap with scleroderma, and 2 had adult DM. Evidence of interstitial lung disease was found in 12 of 18 anti-Jo-1 positive patients (67%), but in only 15 of 79 anti-Jo-1 negative patients (19%) (P less than 0.0002). The 21 anti-Jo-1 positive patients were divided into 3 separate groups based on the observed articular findings. Four patients had a deforming, predominantly nonerosive arthropathy with subluxations of the distal interphalangeal joints, especially the thumbs. Eight patients had a nondeforming arthropathy primarily affecting the small joints of the hands, wrists, shoulders, and knees. Those with deformities had a longer duration of arthritis compared with those with nondeforming arthropathy (mean 14.5 years versus 3.3 years). Nine anti-Jo-1 positive patients had no joint arthropathy. Three of 4 patients with deformities have required articular reconstructive surgery for subluxation, with 2 having associated subcutaneous calcinosis.
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20/30. Syndrome of brittle cornea, blue sclera, and joint hyperextensibility.

    In 3 families 4 patients were affected with the syndrome of brittle cornea, blue sclera, and hyperextensible joints (brittle cornea syndrome). From the review of 17 affected patients described previously and our cases, it appears that this rare autosomal recessive syndrome has variable expressivity. Two different groups of patients may be distinguished: one includes 5 families, all of Tunisian Jewish origin. All patients in this group also have red hair. In the second group, 9 families are from various ethnic origins; affected patients in this group have a normal distribution of hair color. A possible explanation for the existence of these 2 different group of patients is that the locus of the gene responsible for the syndrome is closely linked to the locus for a gene responsible for hair color with linkage disequilibrium in Tunisian jews (Sepharadim).
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