Molecular studies of achondroplasia.

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 Orthop

authors

Nahar R,Saxena R,Kohli S,Puri R,Verma IC

doi

10.4103/0019-5413.50856

subject

Has Abstract

pub_date

2009-04-01 00:00:00

pages

194-6

issue

2

eissn

0019-5413

issn

1998-3727

journal_volume

43

pub_type

杂志文章
  • Controversies in the management of intra-articular fractures of distal humerus in adults.

    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

    authors: Babhulkar S,Babhulkar S

    更新日期:2011-05-01 00:00:00

  • Chronic Recurrent Multifocal Osteomyelitis - A Case Series from India.

    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

    authors: Rao AP,Mallya PP,Ranjani S,Raghuram J

    更新日期:2018-11-01 00:00:00

  • Results of uncemented distal locked prosthesis in revision hip arthroplasty with proximal femoral bone loss: A retrospective study.

    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

    authors: Agarwala S,Jhunjhunwala HR,Pachore JA,Joglekar SB,Eachempati KK

    更新日期:2013-01-01 00:00:00

  • 10 years results of an uncemented metaphyseal fit modular stem in elderly patients.

    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

    authors: De la Torre BJ,Chaparro M,Romanillos JO,Zarzoso S,Mosquera M,Rodriguez G

    更新日期:2011-07-01 00:00:00

  • Non-union scaphoid: Four-corner fusion of the wrist.

    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

    authors: Gupta RK,Chauhan DS,Singh H

    更新日期:2010-04-01 00:00:00

  • Instrumented ligamentotaxis and stabilization of compression and burst fractures of dorsolumbar and mid-lumbar spines.

    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

    authors: Moon MS,Choi WT,Sun DH,Chae JW,Ryu JS,Chang H,Lin JF

    更新日期:2007-10-01 00:00:00

  • Management of Orthopaedic Accidental Emergencies Amidst COVID-19 Pandemic: Our Experience in Preparing to Live with Corona.

    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

    authors: Dabas V,Bhatia N,Goel A,Yadav V,Bajaj V,Kumar V

    更新日期:2020-09-10 00:00:00

  • Orthopedics and COVID-19: Scientific Publications Rush.

    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

    authors: D'Ambrosi R

    更新日期:2020-05-25 00:00:00

  • Accuracy and safety of free-hand pedicle screw fixation in age less than 10 years.

    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

    authors: Seo HY,Yim JH,Heo JP,Patil AS,Na SM,Kim SK,Chung JY

    更新日期:2013-11-01 00:00:00

  • Comparison of cutout resistance of dynamic condylar screw and proximal femoral nail in reverse oblique trochanteric fractures: A biomechanical study.

    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

    authors: Cheema GS,Rastogi A,Singh V,Goel SC,Mishra D,Arora S

    更新日期:2012-05-01 00:00:00

  • Transforaminal lumbar interbody fusion using unilateral pedicle screw fixation plus contralateral translaminar facet screw fixation in lumbar degenerative diseases.

    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

    authors: Liu F,Jiang C,Cao Y,Jiang X,Feng Z

    更新日期:2014-07-01 00:00:00

  • Femoral neck anteversion, acetabular anteversion and combined anteversion in the normal Indian adult population: A computed tomographic study.

    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

    authors: Maheshwari AV,Zlowodzki MP,Siram G,Jain AK

    更新日期:2010-07-01 00:00:00

  • Erratum: Reliability of the mangled extremity severity score in combat-related upper and lower extremity injuries.

    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

    authors:

    更新日期:2016-05-01 00:00:00

  • Iliotibial band syndrome following hip arthroscopy: An unreported complication.

    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

    authors: Seijas R,Sallent A,Galán M,Alvarez-Diaz P,Ares O,Cugat R

    更新日期:2016-09-01 00:00:00

  • Volar Locking Plate versus External Fixation for Distal Radius Fractures: A Meta-analysis of Randomized Controlled Trials.

    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

    authors: Fu Q,Zhu L,Yang P,Chen A

    更新日期:2018-11-01 00:00:00

  • Treatment of giant cell tumor of bone: Current concepts.

    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

    authors: Puri A,Agarwal M

    更新日期:2007-04-01 00:00:00

  • Management of open olecranon fractures using clamp-cum-compressor device.

    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

    authors: Kundu ZS,Kamboj P,Sangwan S,Siwach R,Singh R,Walecha P

    更新日期:2009-01-01 00:00:00

  • Anthropometric analysis of the hip joint in South Indian population using computed tomography.

    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

    authors: Sengodan VC,Sinmayanantham E,Kumar JS

    更新日期:2017-03-01 00:00:00

  • Results of reconstruction of massive irreparable rotator cuff tears using a fascia lata allograft.

    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

    authors: Varvitsiotis D,Papaspiliopoulos A,Antipa E,Papacharalampous X,Flevarakis G,Feroussis J

    更新日期:2015-05-01 00:00:00

  • Status of Vitamin D and Parathyroid Hormone in Patients Scheduled to Undergo Orthopedic Fracture Management: A Case-Control Study.

    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

    authors: Shaan ZH,Ahmad S,Jilani LZ,Asif N,Faizan M,Zahid M

    更新日期:2019-01-01 00:00:00

  • Tuberculosis of the foot: An osteolytic variety.

    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

    authors: Dhillon MS,Aggarwal S,Prabhakar S,Bachhal V

    更新日期:2012-03-01 00:00:00

  • Pediatric Tibial Shaft Fractures.

    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

    authors: Patel NK,Horstman J,Kuester V,Sambandam S,Mounasamy V

    更新日期:2018-09-01 00:00:00

  • Use of Huckstep nail in the periimplant femoral shaft fracture.

    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

    authors: Kim HK,Noh KC,Chung KJ,Hwang JH

    更新日期:2012-11-01 00:00:00

  • Gustilo IIIB Open Tibial Fractures: An Analysis of Infection and Nonunion Rates.

    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

    authors: Singh A,Jiong Hao JT,Wei DT,Liang CW,Murphy D,Thambiah J,Han CY

    更新日期:2018-07-01 00:00:00

  • Predictive Factors Associated with Anterolateral Ligament Injury in the Patients with Anterior Cruciate Ligament Tear.

    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

    authors: Shekari I,Shekarchi B,Abbasian M,Minator Sajjadi M,Momeni Moghaddam A,Kazemi SM

    更新日期:2020-06-01 00:00:00

  • Oncogenic osteomalacia: Problems in diagnosis and long-term management.

    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

    authors: Dhammi IK,Jain AK,Singh AP,Mishra P,Jain S

    更新日期:2010-10-01 00:00:00

  • Decompression of peripheral nerve trunks in leprosy to prevent the development and progression of deformities.

    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

    authors: Husain S,Mishra B

    更新日期:2008-01-01 00:00:00

  • Surgical management of pelvic Ewing's sarcoma.

    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

    authors: Natarajan MV,Sameer MM,Bose JC,Dheep K

    更新日期:2010-10-01 00:00:00

  • Erratum: ERRATUM.

    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:

    authors:

    更新日期:2011-11-01 00:00:00

  • Surgery for hip fractures: Does surgical delay affect outcomes?

    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

    authors: Simunovic N,Devereaux PJ,Bhandari M

    更新日期:2011-01-01 00:00:00