Abstract:
BACKGROUND:Achondroplasia (ACH) is the most frequent form of short-limbed dwarfism, caused by mutations in the FGFR3 gene. It follows an autosomal dominant inheritance, though most cases are sporadic. The molecular techniques are the only available methods to confirm the diagnosis of a skeletal dysplasia. Clinical and radiological features are only suggestive and not confirmatory. The present study was conducted to find out how often the clinical diagnosis of achondroplasia is verified on molecular studies. MATERIALS AND METHODS:From 1998 through 2007, we carried out molecular analysis for the two common mutations in the FGFR3 gene in 130 cases clinically suspected to have ACH. RESULTS:A diagnostic mutation was identified in 53 (40.8%) cases. The common mutation (1138G>A) was present in 50 (94.7%) of the positive cases, while the rare 1138 G>C substitution was found in three (5.3%). CONCLUSION:This study shows that confirmation of clinical diagnosis of ACH by molecular genetic testing is essential to distinguish it from other skeletal dysplasias, to plan therapeutic options, and to offer genetic counseling. Management (medical and surgical) in patients confirmed to have ACH, is briefly discussed.
journal_name
Indian J Orthopjournal_title
Indian journal of orthopaedicsauthors
Nahar R,Saxena R,Kohli S,Puri R,Verma ICdoi
10.4103/0019-5413.50856subject
Has Abstractpub_date
2009-04-01 00:00:00pages
194-6issue
2eissn
0019-5413issn
1998-3727journal_volume
43pub_type
杂志文章abstract:BACKGROUND:The surgical approach, type of olecranon osteotomy, method of stabilization of osteotomy, type of fracture stabilization, orthogonal vs parallel plate fixation, need for transposition of ulnar nerve, place for primary total elbow replacement, and type of rehabilitation schedule after surgical fracture treatm...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.80039
更新日期:2011-05-01 00:00:00
abstract:Background:Chronic recurrent multifocal osteomyelitis (CRMO) is a rare auto-inflammatory disease of the bone. It tends to be multifocal and usually the symptoms tend to run for months and years before diagnosis is usually made. The objective of our study was to understand the clinical presentation and short-term respon...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/ortho.IJOrtho_464_17
更新日期:2018-11-01 00:00:00
abstract:INTRODUCTION:Management of bone loss is a challenge in revision total hip arthroplasty (THA). A retrospective review was performed to study the use of uncemented distal locked prosthesis in cases with proximal femoral bone loss. MATERIALS AND METHODS:Uncemented stems with distal interlocking were used in 65 hips durin...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.106918
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:There are concerns with regard to the femoral fixation in cementless total hip arthroplasty in elderly patients. We report a retrospective analysis of clinical and radiological results of uncemented metaphyseal fit modular stem in elderly patients irrespective of anatomic characterstics of proximal femur. M...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.80328
更新日期:2011-07-01 00:00:00
abstract:BACKGROUND:Four-corner fusion of the wrist is an option for management of non-union scaphoid with painful arthritis of the wrist. Various surgical techniques have been devised for four-corner fusion, with inconsistent results. We present our experience of four-corner fusion achieved using a standard H-plate, designed o...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.61908
更新日期:2010-04-01 00:00:00
abstract:BACKGROUND:Controversy continues regarding the best treatment for compression and burst fractures. The axial distraction reduction utilizing the technique employing the long straight rod or curved short rod without derotation to reduce fracture are practised together with short segment posterolateral fusion (PLF). Effe...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.36999
更新日期:2007-10-01 00:00:00
abstract:Introduction:With increasing prevalence of coronavirus cases (including among health care providers), the current advice for orthopaedic surgeons is to favor non-operative management of most injuries and reduce face-to-face follow-up. We present our experience in managing the patients at Government-run non-COVID-19 tra...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.1007/s43465-020-00252-x
更新日期:2020-09-10 00:00:00
abstract:Background:The purpose of this literature review is to analyze all the articles related to COVID-19 and orthopedics and to shed light on the scientific evidence that has actually been found. Methods:A systematic review of the existing literature was performed to identify all studies dealing with COVID-19 and orthopedi...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章,评审
doi:10.1007/s43465-020-00141-3
更新日期:2020-05-25 00:00:00
abstract:BACKGROUND:Pedicle screws are being used commonly in the treatment of various spinal disorders. However, use of pedicle screws in the pediatric population is not routinely recommended because of the risk of complications. The present study was to evaluate the safety of pedicle screws placed in children aged less than 1...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.121577
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND:Reverse oblique trochanteric fracture of femur is a distinct fracture pattern. 95° Dynamic condylar screw (DCS) and proximal femoral nail (PFN) are currently the most commonly used implants for its fixation. This study aims to biomechanically compare the cutout resistance as well as modes of failure of DCS a...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.96369
更新日期:2012-05-01 00:00:00
abstract:BACKGROUND:Transforaminal lumbar interbody fusion (TLIF) has been used in lumbar degenerative diseases. Some researchers have applied unilateral fixation in TLIF to reduce operational trauma without compromising the clinical outcome, but it is always suspected biomechanically unstable. The supplementary contralateral t...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.136240
更新日期:2014-07-01 00:00:00
abstract:BACKGROUND:Abnormal femoral neck anteversion (FNA) and/or acetabulum anteversion (AA) have long been implicated in the etiogenesis of hip osteoarthritis (OA), developmental dysplasia of the hip (DDH), and impingement, instability and wear in total hip arthroplasty (THA). Since studies on the Indian population are spars...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.65156
更新日期:2010-07-01 00:00:00
abstract::[This corrects the article on p. 656 in vol. 49, PMID: 26806974.]. ...
journal_title:Indian journal of orthopaedics
pub_type: 已发布勘误
doi:10.4103/0019-5413.181808
更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:Hip arthroscopy is considered a safe procedure, considering the relatively low rate of complications. Despite several complications have been described following this surgical procedure, the present event has not yet been described. The purpose of the present study is to report an unpublished complication fo...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.189596
更新日期:2016-09-01 00:00:00
abstract:Background:Volar locking plate (VP) and external fixation (EF) are the two most commonly used methods for treating distal radius fractures. The aim of this study was to identify which of the two treatments leads to better outcomes (clinically and radiographically) with fewer complications. Materials and Methods:A meta...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/ortho.IJOrtho_601_16
更新日期:2018-11-01 00:00:00
abstract::Giant cell tumor (GCT) of bone though one of the commonest bone tumors encountered by an orthopedic surgeon continues to intrigue treating surgeons. Usually benign, they are locally aggressive and may occasionally undergo malignant transformation. The surgeon needs to strike a balance during treatment between reducing...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.32039
更新日期:2007-04-01 00:00:00
abstract:BACKGROUND:Open fractures of olecranon are not a rare occurrence in patients with road traffic accidents particularly motor bike riders who don't use elbow guards. Definitive treatment has to be delayed in many till the wound heals. The present study was conducted to evaluate the results of open fractures of olecranon ...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.45324
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Proximal femur has a significant functional modification on erect bipedal posture. Various proximal femoral parameters were analyzed in Western literature. This information was utilized in prosthetic designing. Implants designed for Western people are used in Indian patients undergoing hip surgeries such as ...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.201709
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND:Despite the advances in surgical treatment options, massive rotator cuff (r-c) tears still represent a challenge for orthopedic surgeons. This study assesses the effectiveness of fascia lata allograft in reconstruction of massive and irreparable r-c tear and to evaluate the healing and functional outcomes. ...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.156202
更新日期:2015-05-01 00:00:00
abstract:Background:Vitamin D deficiency (VDD) is seen in all races, age groups, and ethnic backgrounds. VDD estimated to affect >1 billion people worldwide. The purpose of the present study is to characterize the extent of Vitamin D inadequacy and parathyroid hormone (PTH) levels among patients presenting to us for fracture ma...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/ortho.IJOrtho_25_17
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:Foot involvement in osteoarticular tuberculosis is uncommon and isolated bony involvement of foot bones with an osteolytic defect is even more rare; diagnostic and therapeutic delays can occur, worsening the prognosis. We present a retrospective series of osteolytic variety of foot tuberculosis. MATERIALS A...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.93683
更新日期:2012-03-01 00:00:00
abstract::Tibial shaft fractures are one of the most common pediatric fractures. They require appropriate diagnosis and treatment to minimize complications and optimize outcomes. Diagnosis is clinical and radiological, which can be difficult in a young child or with minimal clinical findings. In addition to acute fracture, Todd...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/ortho.IJOrtho_486_17
更新日期:2018-09-01 00:00:00
abstract::87-year-old female underwent open reduction of distal femoral fracture and internal fixation with locking compression plate and bone graft. She was operated for ipsilateral proximal femoral fractures and stabilized by intramedullary interlocked nail 5 years ago. She developed stress fracture proximal to locked plate. ...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.104240
更新日期:2012-11-01 00:00:00
abstract:Background:Gustilo IIIB tibial fractures are associated with high rates of infection and nonunion. This study evaluates the impact of factors such as patient demographics, mechanism of injury, time to the first debridement, and time to flap coverage on the union and infection rates. Materials and Methods:A retrospecti...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/ortho.IJOrtho_369_16
更新日期:2018-07-01 00:00:00
abstract:Background:The earlier studies did not assess the associated factors of anterolateral ligament injury, comprehensively. We sought to evaluate the independent predictive factors of anterolateral ligament injury in the patients with anterior cruciate ligament tear. Ultrasound scan has an emerging role in the diagnosis of...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.1007/s43465-020-00159-7
更新日期:2020-06-01 00:00:00
abstract::Oncogenic osteomalacia is a rare association between mesenchymal tumors and hypophosphatemic rickets. It is more of a biochemical entity than a clinical one. The pathophysiology of the tumor is not clear. However, it has been seen that the clinical and biochemical parameters become normal if the lesion responsible for...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.69320
更新日期:2010-10-01 00:00:00
abstract:BACKGROUND:Peripheral nerve involvement results in deformities in leprosy. High doses (40-60 mg) of steroids along with anti-leprosy drugs is the preferred treatment, even though 70-75% cases still develop deformity. Early surgical decompression of nerves gives better chances of preventing deformity. We have analyzed t...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.38586
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:Despite advances in adjuvant therapy, Ewing's sarcoma of the pelvis remains an anatomic site with a poor prognosis due to its relative inaccessibility, complex anatomy, and limited reconstructive options available. This study evaluates the role of surgery in the management of patients with pelvic Ewing's sar...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.69312
更新日期:2010-10-01 00:00:00
abstract::[This corrects the article on p. 347 in vol. 45, PMID: 21772629.]. ...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:
更新日期:2011-11-01 00:00:00
abstract::Hip fractures are associated with a high rate of mortality and profound temporary and sometimes permanent impairment of quality of life. Current guidelines indicate that surgeons should perform surgery for a hip fracture within 24 hours of injury because earlier surgery is associated with better functional outcome and...
journal_title:Indian journal of orthopaedics
pub_type: 杂志文章
doi:10.4103/0019-5413.73660
更新日期:2011-01-01 00:00:00