Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants

Author(s):  
Vijaya Sree Venkatapuram ◽  
Shagun Aggarwal ◽  
Aditya Deepak Kulkarni ◽  
Venugopal Satidevi Vineeth ◽  
Ashwin Bhikaji Dalal ◽  
...  
Keyword(s):  
2019 ◽  
Vol 47 (11) ◽  
pp. 2670-2677 ◽  
Author(s):  
Nina Maziak ◽  
Laurent Audige ◽  
Carmen Hann ◽  
Marvin Minkus ◽  
Markus Scheibel

Background: Factors influencing the outcome after arthroscopically assisted stabilization of acute high-grade acromioclavicular (AC) joint dislocations remain poorly investigated. Purpose: To identify determinants of the radiological outcome and investigate associations between radiological and clinical outcome parameters. Study Design: Cohort study; Level of evidence, 3. Methods: The authors performed a retrospective analysis of patients who underwent arthroscopically assisted stabilization for acute high-grade AC joint dislocations. The following potential determinants of the radiological outcome were examined using univariable and multivariable regression analyses: timing of surgery, initial AC joint reduction, isolated coracoclavicular (CC) versus combined CC and AC stabilization, ossification of the CC ligaments, age, and overweight status. In addition, associations between radiological (ie, CC difference, dynamic posterior translation [DPT]) and clinical outcome parameters (Subjective Shoulder Value, Taft score [TS] subjective subcategory, and Acromioclavicular Joint Instability Score [ACJI] pain subitem) were evaluated using univariable analysis. Results: One hundred four patients with a mean (±SD) age of 38.1 ± 11.5 years were included in this study. The mean postoperative follow-up was 2.2 ± 0.9 years. Compared with patients with an overreduced AC joint after surgery, the CC difference was 4.3 mm (95% CI, 1.3-7.3; P = .006) higher in patients with incomplete reduction. Patients with anatomic reduction were 3.1 times (95% CI, 1.2-7.9; P = .017) more likely to develop DPT than those with an overreduced AC joint. An incompletely reduced AC joint was 5.3 times (95% CI, 2.1-13.4; P < .001) more likely to develop DPT versus an overreduced AC joint. Patients who underwent isolated CC stabilization were 4.8 times (95% CI, 1.1-21.0; P = .039) more likely to develop complete DPT than patients with additional AC stabilization. Significantly higher CC difference values were noted for patients who reported pain on the subjective TS ( P = .025). Pain was encountered more commonly in patients with DPT ( PTS = .049; PACJI = .038). Conclusion: Clinicians should consider overreduction of the AC joint because it may lead to favorable radiological results. Because of its association with superior radiographic outcomes, consideration should also be given to the use of additional AC cerclage.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Madoka Yasunaga ◽  
Hiroyuki Ishikawa ◽  
Kenichi Yanagita ◽  
Sachio Tamaoki

Abstract Background Larsen syndrome (LS) is a rare disorder of osteochondrodysplasia. In addition to large-joint dislocations, craniofacial anomalies are typical characteristics. In this report, we performed orthodontic analyses, including skeletal and occlusal evaluations, to examine whether the craniofacial skeletal morphology leads to the craniofacial anomalies in LS. Case presentation A 5 year old Japanese girl who was clinically diagnosed with LS was referred to the orthodontic clinic in the Fukuoka Dental College Medical and Dental Hospital because of a malocclusion. Clinical findings at birth were knee-joint dislocations, equinovarus foot deformities, and cleft soft palate. The patient showed craniofacial anomalies with hypertelorism, prominent forehead, depressed nasal bridge, and flattened midface. To evaluate the craniofacial skeletal morphology, cephalometric analysis was performed. In the frontal cephalometric analysis, the larger widths between bilateral points of the orbitale were related to hypertelorism. The lateral cephalometric analysis revealed the midface hypoplasia and the retrognathic mandible. These findings were responsible for the flattened appearance of the patient’s face, even if the anteroposterior position of the nasion was normal. Her forehead looked prominent in relation to the face probably because of the retrognathic maxilla and mandible. Both the study model and the frontal cephalometric analysis indicated constriction of the upper and lower dental arches. The posterior crossbite facilitated by the premature contacts had developed in association with the constriction of the upper dental arch. Conclusions This patient had some craniofacial anomalies with characteristic appearances in LS. It was evident that the underlying skeletal morphology led to the craniofacial dysmorphism.


2014 ◽  
Vol 179 (2) ◽  
pp. e253-e258 ◽  
Author(s):  
Marc D. Jones ◽  
Ian C. May ◽  
Kerry J. Sweet

Author(s):  
Peter A. Gustafson ◽  
Mark Omwansa ◽  
Andrew G. Geeslin ◽  
Vani J. Sabesan

Finite element models are used for qualitative comparison of the risk of fracture associated with clavicle tunnels in reconstruction of the coracoclavicular ligaments for treatment of high-grade acromioclavicular joint (ACJ) injury. The two-tunnel reconstruction technique is found likely to have higher fracture risk than the less anatomic single tunnel reconstruction. The models suggest that four point bending is more likely than three point bending, cantilever bending, or axial loading to differentiate the reconstruction techniques in a laboratory experiment. The results must be narrowly interpreted only in a laboratory context due to the limitations of the study.


Author(s):  
W. Bradford Rockwell ◽  
R. Christie Wray

2014 ◽  
Vol 7 (5) ◽  
pp. 363-371 ◽  
Author(s):  
Sean A. Matuszak ◽  
Erin A. Baker ◽  
Cory M. Stewart ◽  
Paul T. Fortin

Because of the complex anatomy of the foot, rarity of fractures of the foot, and subtle radiographic cues, foot injuries are commonly overlooked and mis/undiagnosed. This study seeks to investigate a patient population whose peritalar injuries, including fractures and dislocations, were missed on initial examination, in order to analyze factors of known, missed injuries and provide insight into methods for reducing the incidence of missed diagnoses. Surgical cases between January 1999 and May 2011 were queried and retrospectively reviewed to identify missed peritalar injuries. Of 1682 surgical cases reviewed, 27 patients with missed peritalar injury(ies), which were subsequently confirmed by imaging studies, were identified. Using the Orthopaedic Trauma Association classification, fracture and dislocation subtypes were classified. A medical record review was performed to assess demographic and surgical data elements. In this study population, 7 types of peritalar injuries (talus, calcaneal, navicular, and cuboid fractures as well as subtalar, calcaneocuboid, and talonavicular joint dislocations) were diagnosed in 27 patients. All patients required surgical intervention. Talus fractures were the most commonly missed injury. In patients with multiple peritalar injuries, there was a strong correlation between talus and navicular fractures (r = −0.60; P < .01) as well as a moderate correlation between talus fractures and calcaneocuboid dislocations (r = −0.46; P = .02). The presence of a calcaneal fracture significantly decreased the time to definitive diagnosis ( P = .01). Male patients’ diagnoses were delayed an average of 324 days and females 105 days ( P = .04). A moderate correlation was found between patient age at injury and time to diagnosis (r = −0.47; P = .04), with a decreased time to diagnosis as patient age increased. Significant factors were identified in this patient population, including patient sex and age, which may contribute to missed or delayed diagnosis in the clinical setting. Prompt and accurate diagnosis of peritalar injuries may improve long-term outcomes. Levels of Evidence: Care Management, Level V


2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Hayat Ahmad Khan ◽  
Younis Kamal ◽  
Mohammad Ashraf Khan ◽  
Munir Farooq ◽  
Naseemul Gani ◽  
...  

Fifty percent of joint dislocations reported to the emergency department are of shoulder joint. Various techniques are used to reduce the shoulder and Spaso technique is the least known to the orthopaedic residents which is a simple one-man vertical traction method of shoulder reduction. We evaluated the effectiveness of vertical traction method for anterior shoulder dislocation by orthopaedic residents. Sixty consecutive patients of anterior glenohumeral dislocation attending the emergency department of our hospital were taken up for the study. The reduction was done using Spaso technique. Right shoulder was dislocated in 40 patients and 31 patients had recurrent shoulder dislocation. In 55 patients, shoulder was reduced without the use of any anaesthesia. In patients where no anaesthesia was used, the time of traction ranged from 45 seconds to 5 minutes, while under anaesthesia the time of traction ranged from 1 to 4 minutes. Twenty-one patients had associated greater tuberosity fracture which did not affect the method of reduction and all of them were reducible. No complication was reported, and all the patients were satisfied with the method. In conclusion vertical traction method is a good technique for reducing anterior shoulder dislocation with an easy learning curve among the residents and no complication has been reported so far.


Sign in / Sign up

Export Citation Format

Share Document