Abstract：
:The skeletal dysplasias are a large and heterogeneous group of disorders. Currently, there are more than 100 recognized forms of skeletal dysplasia, which makes arriving at a specific diagnosis difficult. This process is additionally complicated by the rarity of the individual conditions. The establishment of a precise diagnosis is important for numerous reasons, including prediction of adult height, accurate recurrence risk, prenatal diagnosis in future pregnancies, and most importantly, for proper clinical treatment. When a child is referred for genetic evaluation of suspected skeletal dysplasia, clinical and radiographic indicators, and more specific biochemical and molecular tests, are used to try to arrive at the underlying diagnosis. Preferably, the clinical features and pattern of radiographic abnormalities are used to generate a differential diagnosis so that the appropriate confirmatory tests can be done. The current author will review this sequence of diagnostic steps. For geneticists, this process starts with history gathering including the prenatal and family history. This is followed by clinical examination with measurements and radiographs. Only once a limited differential diagnosis has been established, should molecular investigations be considered.
journal_name
Clin Orthop Relat Resjournal_title
Clinical orthopaedics and related researchauthors
Unger Sdoi
10.1097/00003086-200208000-00006subject
Has Abstractpub_date
2002-08-01 00:00:00pages
32-8issue
401eissn
0009-921Xissn
1528-1132pub_type
杂志文章abstract：:Computer-assisted navigation systems for hip resurfacing arthroplasty are designed to minimize the chance of implant malposition. However, there is little evidence computer navigation is useful in the presence of anatomical deformity. We therefore determined the accuracy of an image-free resurfacing hip arthroplasty n...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：10.1007/s11999-009-0850-6
更新日期：2009-09-01 00:00:00
abstract：:Two hundred thirty-four primary total knee prostheses were evaluated with a 45 degrees merchant view to examine patellar position and fixation. Despite a standardized technique for obtaining roentgenographs, patellar position varied with leg position. Overall, 54.7% tracked centrally, 31.2% tilted, and 14.5% displaced...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1993-01-01 00:00:00
abstract：UNLABELLED:We sought to determine whether open reduction and internal fixation in combination with free vascularized bone grafting and elbow contracture release is an effective treatment for patients with recalcitrant distal humeral nonunions with segmental bone loss. In addition, we wondered whether this treatment str...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：2005-06-01 00:00:00
abstract：:Sodium hyaluronate (HA) with a molecular weight of 202 x 10(4) (HA-202) was administered into the right knees of mature rabbits for the treatment of experimental osteoarthrosis induced by resection of the anterior cruciate ligament. At six and 12 weeks after the initiation of administration, the test group was compare...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
abstract：:A technique for ipsilateral femoral neck and shaft fracture using the sliding compression hip screw with plate combined with trochanteric antegrade Ender nailing of the femur was applied in two cases. Ender nails can be passed without difficulty past a compression hip screw and the bicortical plating screws. The hip a...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1986-12-01 00:00:00
abstract：:A series of 59 knees in 58 patients were surgically treated from 1977 to 1982 for chondromalacia patellae, and were followed for an average of 1.2 to 4.6 years after the operation. The operative procedure was open lateral retinacular release in all knees. In knees with recurrent patellar subluxation, the number of poo...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1988-09-01 00:00:00
abstract：:Design of a synthetic replacement or selection of a biologic substitute requires detailed knowledge of the mechanical properties of the normal ligament. Femur-anterior cruciate ligament-tibia unit (ACL) data have been frequently used for this purpose, although not always properly. Mechanical properties of the human AC...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章,评审
doi：
更新日期：1985-06-01 00:00:00
abstract：:A series of 205 pediatric patients affected by osteosarcoma, Ewing's sarcoma, fibrosarcoma, and malignant fibrous histiocytoma of bone were treated from 1978 to 1988. Ninety-eight percent of the patients received chemotherapy and 63% had a surgical resection. Sixty-five percent of all patients were alive at 30 months ...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章,评审
doi：
更新日期：1991-03-01 00:00:00
abstract：:Roentgenographic analysis showed that centrifugation significantly reduced the gross and regional porosity of the cement compared with hand-mixed controls in a simulated total hip arthroplasty model. Static failure test of the prosthetic system demonstrated that the centrifuged cement had significantly greater strengt...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1992-12-01 00:00:00
abstract：BACKGROUND:The elbow is more susceptible to loss of motion after trauma than any other joint. Open arthrolysis often is performed for posttraumatic elbow stiffness if the stiffness does not improve with nonsurgical treatment, but the midterm results of this procedure and factors that may limit recovery have not been wi...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：10.1097/CORR.0000000000000726
更新日期：2019-10-01 00:00:00
abstract：:To evaluate the effect of application of pulsed direct current electrical stimulation to callus tissue, a 1-cm bone-lengthening model using an external lengthener was applied to rabbit tibia. Twenty-microampere pulsed direct current was applied 12 hours daily from the day of osteotomy until 40 days after the completio...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1995-03-01 00:00:00
abstract：:Selection of the suitable treatment method for an infected hip arthroplasty requires careful assessment of patient-related variables and expected treatment goals. The basic treatment options include antibiotic suppression, open debridement, resection arthroplasty, arthrodesis, reimplantation of another prosthesis, and...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章,评审
doi：10.1097/00003086-200403000-00010
更新日期：2004-03-01 00:00:00
abstract：:Seven patients with chronic osteomyelitis were treated by surgical debridement. Cefamandole was administered intravenously before surgery. During the debridement, cefamandole concentrations were measured in serum and necrotic bone. Although adequate levels of antibiotic were achieved in the serum, minimal or no concen...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1985-10-01 00:00:00
abstract：:Recurrent traumatic anterior shoulder dislocation results in soft tissues lesions around the glenohumeral joint. The subscapularis muscle is a major active stabilizer of the shoulder and the hypothesis of the current study is that one would expect pathologic changes within its substance secondary to the trauma. A hist...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：2002-05-01 00:00:00
abstract：:As degenerative changes progress in the aging population, more patients will present with degenerative spondylolisthesis. The clinical picture is usually of a woman older than 50 years of age with a degenerative lumbar spondylolisthesis at L5 with symptoms of neurogenic claudication or radiculopathy. Imaging studies w...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章,评审
doi：
更新日期：2001-03-01 00:00:00
abstract：:Two hundred and twenty-one consecutive arthroscopic examinations of the knee are reviewed to establish diagnostic accuracy based on subsequent arthrotomy and the clinical course in the absence of arthrotomy. One hundred and nine knees showed an arthroscopic accuracy of 89.9 per cent at subsequent arthrotomy. Ninety-fi...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1976-11-01 00:00:00
abstract：:Osteoarticular defects present a reparative challenge to orthopaedic surgeons. Osteoarticular allografts provided a promising solution. Unfortunately, many of these allografts failed secondary to articular cartilage degeneration. To determine the role of the extracellular matrix in graft failure, the authors have char...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：10.1097/00003086-200101000-00004
更新日期：2001-01-01 00:00:00
abstract：:The goal of subtotal arthrodesis of the wrist is to provide a stable and pain-free joint, with preservation of a limited but useful range of motion. Experience indicates that the available mobility of the joints that are left unfused tends to increase with time and use of the extremity, and that accelerated wear of th...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1984-07-01 00:00:00
abstract：:A previously undescribed accessory flexor digitorum superficialis muscle-tendon unit was discovered on surgical exploration of the wrist in an 18-year-old girl with symptoms of distal ulnar neuropathy and a volar soft-tissue mass. Excision of the muscle-tendon unit resulted in complete resolution of symptoms. The preo...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1985-04-01 00:00:00
abstract：BACKGROUND:The literature suggests that a cemented long-stem femoral arthroplasty is associated with increased intraoperative and perioperative risks. Embolic events may precipitate cardiopulmonary complications and even death; by contrast, others have reported that the use of a cemented long-stem femoral arthroplasty ...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：10.1007/s11999-013-3113-5
更新日期：2013-10-01 00:00:00
abstract：:Experience with cementless fixation over the last six years indicates that the technique offers greater opportunities for bone conservation. Thus, when cement is used, and especially if it is forced into the skeleton under pressure, the amount of bone incorporated into the implant is considerable. Conversely, if no ce...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1985-01-01 00:00:00
abstract：:This study compares biomechanical characteristics of interference screw fixation to "postfixation" (sutures tied over cancellous screw and washer) of bone-patellar tendon-bone grafts in porcine anatomic specimen knees. Maximum pull-out strength (ultimate failure load), displacement of the bone graft at 110 N of force,...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1994-03-01 00:00:00
abstract：:An osteoid osteoma occurred in the distal femoral epiphysis of an 11-year-old boy. Only eight other cases of this tumor in an open epiphysis have been reported. An image intensifier was used to place the tip of a wire in the center lesion. Removal through a small incision with a bone trephine placed over a guiding Kir...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1986-05-01 00:00:00
abstract：:The ability to forecast the course and outcome of severe mechanical trauma would aid clinicians in making decisions concerning the treatment of patients. Multifactorial regression models, developed from data obtained from 933 patients with polytrauma and shock, have a high predictive value. A two-part data sheet was d...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1991-05-01 00:00:00
abstract：:This CORR Insights is a commentary on the article ''Ultrasound as a first line test in the diagnosis of carpal tunnel syndrome: a cost effectiveness analysis" by John R Fowler and colleagues available at DOI 10.1007/s11999-012-2662-3 . ...
journal_title：Clinical orthopaedics and related research
pub_type： 评论,杂志文章
doi：10.1007/s11999-012-2663-2
更新日期：2013-03-01 00:00:00
abstract：:Release of antibiotics from antibiotic-loaded PMMA is dependent on its permeability. Loading PMMA with soluble particulate filler has been proposed to increase permeability and antibiotic release for beads and spacers. We therefore assessed particulate sucrose, xylitol, and erythritol as fillers to increase the permea...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：10.1097/BLO.0b013e3181123e90
更新日期：2007-08-01 00:00:00
abstract：:Endometriosis is a disorder resulting from the presence of actively growing and functioning endometrial tissue in aberrant sites outside the uterus. Ectopic implantation of the endometrium can be located throughout the pelvic cavity. Depending on the location of the endometriosis, it can mimic common musculoskeletal p...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1999-11-01 00:00:00
abstract：BACKGROUND:Osteoid osteoma has a nidus surrounded by sclerotic bone with a size usually less than 20 mm. Its diagnosis is made on typical presentation of nocturnal pain and imaging findings. Excision of the niduses, which are often small and difficult to precisely identify, sometimes may result in resection of surround...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：10.1007/s11999-010-1265-0
更新日期：2010-07-01 00:00:00
abstract：:Internal fixation of oblique metacarpal fractures was studied in a cadaver model by impact loading. One hundred twenty fresh-frozen human metacarpals underwent compressive and bending impacts after oblique osteotomy and internal fixation. Dorsal plating with lag screws, 2 dorsal lag screws (2-screws), crossed Kirschne...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：10.1097/00003086-199604000-00036
更新日期：1996-04-01 00:00:00
abstract：:After permanent loss of the sciatic nerve, most patients eventually have problems with the insensate skin and need transitibial amputation. The authors have designed a long medial sensate myocutaneous flap down to the foot based on the saphenous branch of the femoral nerve that resulted in good sensation over the enti...
journal_title：Clinical orthopaedics and related research
pub_type： 杂志文章
doi：
更新日期：1998-02-01 00:00:00
