scholarly journals Computed tomography assessment of Apert syndrome

2004 ◽  
Vol 18 (1) ◽  
pp. 35-39 ◽  
Author(s):  
Marco Antônio Portela Albuquerque ◽  
Marcelo Gusmão Paraíso Cavalcanti

Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, and symmetric syndactyly of the hands and feet. The aim of this study is to assess the clinical and computed tomography imaging patterns of non-operated patients with Apert syndrome, correlating the bone abnormalities of the cranium, face and the skull base. The study population consisted of 5 patients with Apert syndrome. As part of the craniofacial assessment of the imaging center's routine, all patients underwent clinical evaluation and CT (computed tomograph) exam. Three-dimensional images were generated from helical CT scans, using an independent workstation, to evaluate the craniofacial abnormalities of the syndrome. Clinical exam determined that syndactyly of the hands and feet, pseudocleft in the midline palate and midface hypoplasia were features observed in all of the Apert patients. 3D-CT showed that some abnormalities such as bilateral coronal synostosis, calvarial midline defect and reduction in the antero-posterior dimension of the anterior, medial and posterior cranial fossae were present in all cases. In conclusion, the correlation of clinical and CT imaging findings can be useful to assess the main features observed in Apert patients, improving the criteria for examining the patient and diagnosing this condition, and contributing to the therapeutic planning and surgical follow-up.

2017 ◽  
Vol 2017 ◽  
pp. 1-13
Author(s):  
Xin Wan ◽  
Ximing Liu ◽  
Jichen Miao ◽  
Peng Cong ◽  
Yuai Zhang ◽  
...  

Pebble dynamics is important for the safe operation of pebble-bed high temperature gas-cooled reactors and is a complicated problem of great concern. To investigate it more authentically, a computed tomography pebble flow detecting (CT-PFD) system has been constructed, in which a three-dimensional model is simulated according to the ratio of 1 : 5 with the core of HTR-PM. A multislice helical CT is utilized to acquire the reconstructed cross-sectional images of simulated pebbles, among which special tracer pebbles are designed to indicate pebble flow. Tracer pebbles can be recognized from many other background pebbles because of their heavy kernels that can be resolved in CT images. The detecting principle and design parameters of the system were demonstrated by a verification experiment on an existing CT system in this paper. Algorithms to automatically locate the three-dimensional coordinates of tracer pebbles and to rebuild the trajectory of each tracer pebble were presented and verified. The proposed pebble-detecting and tracking technique described in this paper will be implemented in the near future.


2020 ◽  
Vol 3 (11) ◽  
pp. 352-354
Author(s):  
Pooja Gaur

Defined as a rare type I acrocephalosyndactyly syndrome which is clinically characterized by dysmorphic facial features, craniosynostosis, and severe syndactyly of the hands and feet, Apert Syndrome represents an autosomal dominant inheritance which occurs due to the gene mutations in the receptors of the fibroblast growth factor. Oral lesions include tooth crowding, reduction in the size of the maxilla, impacted teeth, anterior open-bite, ectopic eruption, delayed eruption, thick gingiva and supernumerary teeth. The present case report describes a 58 year old female patient reported with the features of Apert’s syndrome such as dysmorphic facial features, occular anomalies, syndactyly and oral features. The case was referred to a specialized centre of clinical care for further treatment.


2017 ◽  
Vol 08 (03) ◽  
pp. 330-334 ◽  
Author(s):  
K. Suprasanna ◽  
Ashvini Kumar

ABSTRACT Objective: To evaluate the proportion of surgically relevant anatomical variations such as caroticoclinoid foramen, interclinoid osseous bridge, and anterior clinoid pneumatization in patients with paraclinoid aneurysms based on computed tomography (CT) cerebral angiography studies. Materials and Methods: Fifty-four CT cerebral angiography studies showing paraclinoid aneurysms involving the cavernous, clinoid, and supraclinoid internal carotid artery (ICA) were retrospectively evaluated. Source images were processed for three-dimensional reconstructions to evaluate the presence and type of caroticoclinoid foramen, interclinoid osseous bridge, and multiplanar reconstructions with bone algorithm to study the type of pneumatization. Results: The study included 30 female and 24 male patients with mean age of 45.61 (10.47) years. Among the 108 sides studied in 54 patients, caroticoclinoid foramen was seen in 24 cases (22.22%), interclinoid osseous bridge was seen unilaterally in 1 case (0.9%), and pneumatization of anterior clinoid process occurred in 12 cases (11.11%). Incomplete caroticoclinoid foramen (11 cases) and Type I pneumatization (7 cases) were seen to be predominant subtypes. There was no statistically significant gender difference in the occurrence of caroticoclinoid foramen and anterior clinoid pneumatization. Seventy-four aneurysms were detected in 54 patients. Based on their location, 46 aneurysms involved supraclinoid ICA, 18 aneurysms in the clinoid segment, and 10 aneurysms in the cavernous segment. Caroticoclinoid foramen was most prevalent in clinoid aneurysms with 12 cases occurring in the clinoid segment. Conclusion: Notable proportions of caroticoclinoid foramen and pneumatization occur in cases of paraclinoid aneurysm. Radiological reports should emphasize on these surgically relevant bony anatomical variations.


2005 ◽  
Vol 46 (3) ◽  
pp. 222-226 ◽  
Author(s):  
R. Röttgen ◽  
F. Fischbach ◽  
M. Plotkin ◽  
H. Herzog ◽  
T. Freund ◽  
...  

Purpose: To improve the sensitivity of computed tomography (CT) colonography in the detection of polyps by comparing the 3D reconstruction tool “colon dissection” and endoluminal view (virtual colonoscopy) with axial 2D reconstructions. Material and Methods: Forty‐eight patients (22 M, 26 F, mean age 57±21) were studied after intra‐anal air insufflation in the supine and prone positions using a 16‐slice helical CT (16×0.625 mm, pitch 1.7; detector rotation time 0.5 s; 160 mAs und 120 kV) and conventional colonoscopy. Two radiologists blinded to the results of the conventional colonoscopy analyzed the 3D reconstruction in virtual‐endoscopy mode, in colon‐dissection mode, and axial 2D slices. Results: Conventional colonoscopy revealed a total of 35 polyps in 15 patients; 33 polyps were disclosed by CT methods. Sensitivity and specificity for detecting colon polyps were 94% and 94%, respectively, when using the “colon dissection”, 89% and 94% when using “virtual endoscopy”, and 62% and 100% when using axial 2D reconstruction. Sensitivity in relation to the diameter of colon polyps with “colon dissection”, “virtual colonoscopy”, and axial 2D‐slices was: polyps with a diameter >5.0 mm, 100%, 100%, and 71%, respectively; polyps with a diameter of between 3 and 4.9 mm, 92%, 85%, and 46%; and polyps with a diameter <3 mm, 89%, 78%, and 56%. The difference between “virtual endoscopy” and “colon dissection” in diagnosing polyps up to 4.9 mm in diameter was statistically significant. Conclusion: 3D reconstruction software “colon dissection” improves sensitivity of CT colonography compared with the endoluminal view.


1997 ◽  
Vol 18 (8) ◽  
pp. 482-488 ◽  
Author(s):  
F.J. van Hellemondt ◽  
J.W.K. Louwerens ◽  
E.S. Sijbrandij ◽  
A.P.G. van Gils

The main objective of this study was to compare subtalar inversion stress views using the Brodén view with inversion stress views on helical computed tomography (CT). One of the drawbacks of routine radiography is the imaging of three-dimensional structures in a two-dimensional plane. We investigated whether the use of helical CT would lead to a more objective and clearer measurable method to determine the amount of tilt in the subtalar joint. A group of 15 patients with unilateral chronic instability complaints and clinically suspected subtalar instability was examined. The contralateral asymptomatic foot was used as control. A variable amount of subtalar tilt (range, 4° to 18°) was demonstrated in all cases on stress radiographs, without finding significant difference between the symptomatic and asymptomatic feet. However, contrary to the findings at the talocrural level, subtalar tilt was found in none of the patients using helical CT. Thus, we now doubt that the tilt seen during stress examination using the Brodén view is the true amount of tilt. It may be that the lateral opening, seen on these radiographs, largely results from imaging two planes that have made a translatory and rotatory movement relative to each other in an oblique direction. It is concluded that the Brodén stress examination might not be useful for screening patients with subtalar instability. Associated anomalies not visible on the radiographs were detected by helical CT. In four cases, narrowing of the articular cartilage and irregular and hypertrophic bone formation at the middle facet joint of the subtalar joints were found. It is likely that these changes cause disturbance of function of this joint and it is suggested that the subjective complaint of instability with “giving way” is not only caused by hypermobility, but can be caused by other disturbances of normal motion.


1996 ◽  
Vol 110 (6) ◽  
pp. 604-608 ◽  
Author(s):  
Hideki Muraoka ◽  
Atsunobu Tsunoda ◽  
Masahiro Kojima ◽  
Hisashi Tokano ◽  
Atsushi Komatsuzaki

AbstractWe have employed helical computed tomography (CT) to evaluate ear, nose and throat diseases, and present herein seven typical cases: middle ear surgery, osteoma of the external ear canal, maxillary fracture, tripod fracture, submandibular gland calculus, epiglottic abscess and vocal fold palsy. Helical (CT) facilitates the assessment of these diseases and its high diagnostic value is described.


2019 ◽  
Vol 99 (2) ◽  
pp. 223-232 ◽  
Author(s):  
B. Kim ◽  
H. Shin ◽  
W. Kim ◽  
H. Kim ◽  
Y. Cho ◽  
...  

Premature fusion of the cranial suture and midface hypoplasia are common features of syndromic craniosynostosis caused by mutations in the FGFR2 gene. The only treatment for this condition involves a series of risky surgical procedures designed to correct defects in the craniofacial bones, which must be performed until brain growth has been completed. Several pharmacologic interventions directed at FGFR2 downstream signaling have been tested as potential treatments for premature coronal suture fusion in a mouse model of Apert syndrome. However, there are no published studies that have targeted for the pharmacologic treatment of midface hypoplasia. We used Fgfr2S252W/+ knock-in mice as a model of Apert syndrome and morphometric analyses to identify causal hypoplastic sites in the midface region. Three-dimensional geometric and linear analyses of Fgfr2S252W/+ mice at postnatal day 0 demonstrated distinct morphologic variance. The premature fusion of anterior facial bones, such as the maxilla, nasal, and frontal bones, rather than the cranium or cranial base, is the main contributing factor toward the anterior-posterior skull length shortening. The cranial base of the mouse model had a noticeable downward slant around the intersphenoid synchondrosis, which is related to distortion of the airway. Within a skull, the facial shape variance was highly correlated with the cranial base angle change along Fgfr2 S252W mutation–induced craniofacial anomalies. The inhibition of an FGFR2 downstream signaling enzyme, PIN1, via genetic knockdown or use of a PIN1 inhibitor, juglone, attenuated the aforementioned deformities in a mouse model of Apert syndrome. Overall, these results indicate that FGFR2 signaling is a key contributor toward abnormal anterior-posterior dimensional growth in the midface region. Our study suggests a novel therapeutic option for the prevention of craniofacial malformations induced by mutations in the FGFR2 gene.


2014 ◽  
Vol 15 (6) ◽  
pp. 784-787
Author(s):  
Manoj Agarwal ◽  
HP Trivedi ◽  
Ankit Gaur ◽  
Manju Gupta ◽  
Anuradha Sharma ◽  
...  

ABSTRACT The knowledge of root canal morphology and the existing anatomical variations is essential for successful endodontic therapy. This report presents an extraordinary case of unusual tooth morphology involving the mandibular first molar with a single root and a single canal in a patient. Endodontic treatment of the affected tooth 36 was performed. Cone beam computed tomography (CBCT) images confirmed our diagnostic and therapeutic measures after endodontic management of the teeth. This morphologic variation has been reported once in the literature. The availability of three-dimensional images further provided the opportunity for the precise description of the anatomy of mandibular first molar with single roots and single canals. How to cite this article Gaur A, Trivedi HP, Gupta M, Sharma A, Likhyani L, Agarwal M. Mandibular First Molar with Vertucci Type I Canal Configuration diagnosed with the Help of Cone Beam Computed Tomography: A Rare Case Report. J Contemp Dent Pract 2014;15(6):784-787.


2021 ◽  
Vol 11 (2) ◽  
pp. 475-477
Author(s):  
Mahmuda Hassan ◽  
B H Nazma Yasmeen ◽  
Masuma Khan ◽  
Afsana Mukti

Apert syndrome is a rare type I acrocephalosyndactyly syndrome having autosomal dominant inheritance due to mutations in the fibroblast growth factor receptors gene. New or fresh mutations are also frequent. It is characterized by dysmorphic face, craniosynostosis, severe syndactyly of the hands and feet. Apert syndrome affects the first branchial or pharyngeal arch, the precursor of the maxilla and mandible. Disturbances in the development of branchial arches during fetal period create extensive malformation in different parts of the body. Management of Apert syndrome requires a multidisciplinary approach. We, hereby, report a case of a 45-days old baby with Apert syndrome. Northern International Medical College Journal Vol.11 (2) Jan 2020: 475-477


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