Combination Of Anomalies Research Articles

The Mediastinal Distortions

The case we present involves an atypically developed thoracic aorta, resulting in the consecutive displacement of the trachea and esophagus, combined with the unusual formation of vascular bridges between the ascending and descending thoracic aorta and the arising supraaortic branches. This represents a pathological entity further associated with a cardiac condition of Sick Sinus Syndrome and heterotopy of the excitation center in the pulmonary veins. Multiple descriptions of the combination of dextrocardia and Sick Sinus Syndrome have been reported by Aurora Bakalli et al. 2021 (1), as well as the combination of dextrocardia, persistent left superior vena cava, and Sick Sinus Syndrome by Gangliang Guo et al. 2017 (2), and another case of dextrocardia and Sick Sinus Syndrome by Junqian Luo et al. 2022 (3). Such combinations of anomalies have not been reported in larger statistical collections to date.

Case report: A novel combination of anomalies in a patient with 22q11.2 deletion syndrome

A frequently occurring genetic disorder, 22q11.2 deletion syndrome can manifest with various abnormalities. The range of cardiac anomalies associated with this syndrome is extensive, with conotruncal defects being the most prevalent. In this study, we report the case of a patient with a unique combination of anatomical abnormalities such as crisscross pulmonary arteries, a cervical aortic arch with coarctation of the aorta, and a ventricular septal defect. The patient underwent initial surgical intervention, which resulted in significant clinical improvement.

Anterior menisco-femoral ligaments combined with agenesis of the anterior cruciate ligament

Introduction. The given article describes a rare case of congenital anomaly in the knee joint. It also analyzes the current state of art on such malformations and options for their treatment. The authors present their rationale on selecting a curative modality. The described developmental anomaly included the following: no tibial attachment of anterior horns of both meniscus, agenesis of the anterior cruciate ligament as well as of anterolateral and anteromedial meniscofemoral ligaments which were joined into a structure mimicking the track of native anterior cruciate ligament and attaching the femur lateral condyle in the projection of intercondylar ridge.Material and methods. Based on examination findings as well as on known curative options for similar anomalies, the researchers decided to perform the anchor stabilization of anterior horns of both menisci. Since there are no data on this type of knee surgery, the surgeons decided to make anchor stabilization similar to that which is used for the capsulolabral complex in case of instability of the shoulder joint. Surgical stages: stitching the anterior horns of both menisci, formation of bone channels in the projection of the proper anatomical attachment of the anterior horns to tibia condyles , their installation and fixation to the system of suture anchors.Results. The chosen curative modality has shown good clinical results during 12-month clinical observation.Conclusions. For the first time, the authors have described such combination of anomalies and variants of its correction. As it has been noted, MRI and clinical findings may contradict each other and create a false picture of the presence of anterior cruciate ligament and meniscus injury. For better differentiation of such anomalies, it is recommended to perform additional axial MRI protocols with the increased number of images.

Anatomical variations, treatment and outcomes of Herlyn-Werner-Wunderlich syndrome: a literature review of 1673 cases.

This study aimed to perform a systematic review of patients with Herlyn-Werner-Wunderlich syndrome (HWWS) and present the prevalence of symptoms, anatomical variants, endometriosis, surgical interventions, and short- and long-term outcomes. A structured search was performed in PubMed, Scopus, Embase, and China National Knowledge Infrastructure, and studies published between 1 January, 2000 and 19 April, 2022 were included. The following data on HWWS were recorded: symptoms, anatomical variations, surgical interventions and short- and long-term outcomes. A total of 1673 patients were included in our analysis. The main symptoms were dysmenorrhea (53.8%), abnormal uterine bleeding (28.9%), and vaginal discharge (26.6%). The principal anomalies were right-obstructed hemivagina (57.3%), haematocolpos (81.7%), uterus didelphys (88.8%), and ipsilateral renal agenesis (93.1%). A majority of patients belonged to classification 1.1 (46.7%), with a blind hemivagina, and classification 2.1 (39.2%), with a small communication between two vaginas. The mainstay of treatment was vaginal septum excision (91.8%). Minimally invasive surgery (48.5%) was performed only after vaginal surgery (61.9%), and only a few patients required a second surgery (2.2%). Endometriosis was found in 9.6% of the patients. Fifty-two percent of them had ipsilateral ovarian endometriosis cysts. Pregnancy rate of these patients was 72.1%. The rate of adverse pregnancy outcomes was 22.4%. The caesarean section rate was 61.2%. Patients with HWWS presented with nonspecific symptoms and demonstrated various combinations of anomalies. The most common anatomical variants are classifications 1.1 and 2.1. Vaginal septum excision is effective in relieving symptoms and preventing complications, with hysteroscopic surgery as an option where there is concern about protecting the hymen from minor injury. The pregnancy rate for these patients after surgery was satisfactory, and the rate of adverse pregnancy outcomes after surgery was acceptable. We advise females with urological anomalies to be screened for Müllerian anomalies because of the close association between these two types of anomalies. Thus, HWWS contributes to the occurrence of endometriosis; however, more research is required to investigate the relationship between pelvic endometriosis and HWWS.

ANOMALOUS BRANCHING PATTERN OF UNILATERAL EXTERNAL CAROTID ARTERY: A CASE REPORT

Variations in the branching pattern of the external carotid artery (ECA) are well known and documented. The variation in the present case was compared with those reported before. An anomalous unilateral variation in the branching pattern of the left ECA was observed in a male embalmed cadaver. In this case, the ECA gives origin of linguofacial trunk as well as direct origin of glandular branch to the submandibular salivary gland, submental salivary gland and palatine glands from the external carotid artery instead of facial artery. The embryogenesis of such a combination of anomalies is not clear, but the anatomic consequences may have important clinical implications. Anatomical knowledge of the origin, course, and branching pattern of the external carotid artery will be useful to general, head & neck, ENT and oncosurgeons when ligating the vessels during head and neck surgeries to avoid unforeseen complication in the form of bleeding by injuring the abnormal arteries. It is also important for the vascular surgeons and radiologists while performing the procedures on the arteries

Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis.

Apert syndrome is a multisystem genetic disorder typically characterized by craniosynostosis and syndactyly. Studies also report an increased incidence of hearing loss in children with Apert syndrome in comparison to the general population. The aim of this study was to gain an understanding of the inner ear radiological anatomical variations seen in children with Apert syndrome and correlate these with audiological outcomes. This was a retrospective review of computed tomography imaging of patients with Apert syndrome. Radiological images were examined for anatomical variations in inner ear structures. These were correlated with audiological testing. Nineteen patients were included in the study. The most commonly observed anomaly was an absent bony window of the lateral semi-circular canal (SCC) in 11 patients (58%), followed by an enlarged lateral SCC in 12 patients (63%). This combination of anomalies was seen collectively in 42% of patients and together these give the appearance of a 'rectangular vestibular cavity'. Audiological results were available in 11 patients and 9 of these patients had a conductive hearing loss. To the authors' knowledge, this is the first study that reports radiological findings alongside audiological testing in Apert syndrome and describes the appearance of a 'rectangular vestibular cavity'.

Detection of Geochemical Element Assemblage Anomalies Using a Local Correlation Approach

As direct prospecting data, geochemical data play an important role in modelling prospect potential. Geochemical element assemblage anomalies are usually reflected by the correlation between elements. Correlation coefficients are computed from the values of two elements, which reflect only the correlation at a global level. Thus, the spatial details of the correlation structure are ignored. In fact, an element combination anomaly often exists in geological backgrounds, such as on a fault zone or within a lithological unit. This anomaly may cause some combination of anomalies that are submerged inside the overall area and thus cannot be effectively extracted. To address this problem, we propose a local correlation coefficient based on spatial neighbourhoods to reflect the global distribution of elements. In this method, the sampling area is first divided into a set of uniform grid cells. A moving window with a size of 3×3 is defined with an integer of 3 to represent the sampling unit. The local correlation in each unit is expressed by the Pearson correlation coefficient. The whole area is scanned by the moving window, which produces a correlation coefficient matrix, and the result is portrayed with a thermal diagram. The local correlation approach was tested on two selected geochemical soil survey sites in Xiao Mountain, Henan Province. The results show that the areas of high correlation are mainly distributed in the fault zone or the known mineral spots. Therefore, the local correlation method is effective in extracting geochemical element combination anomalies.

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

BackgroundSevere congenital ophthalmological malformations and glaucoma might be an important occasional feature in patients with Coffin-Siris syndrome (CSS), especially Coffin-Siris syndrome 9 (CSS9, OMIM #615866) caused by SOX11 mutation. Recently, primary (open-angle) glaucoma was described in two children with the most common form of Coffin-Siris syndrome, CSS1 (OMIM #135900) by ARID1B (AT-rich interaction domain-containing protein 1B) gene mutation. In this article, we present the first report of glaucoma with Coffin-Siris syndrome 9 as well as the first report of secondary glaucoma with any form of Coffin-Siris syndrome. These findings indicate that secondary glaucoma is an occasional finding in patients with Coffin-Siris syndrome.Case presentationA child with secondary childhood glaucoma and additional ocular manifestations was evaluated and treated at the childhood glaucoma centre in Mainz, Germany. Examination under general anaesthesia revealed ocular anterior segment dysgenesis (ASD) (Peters type iridocorneal dysgenesis) in combination with congenital limbal stem cell deficiency (LSCD), aniridia, and cataract. The patient also had multiple other congenital anomalies and severe developmental delay. To explain his combination of anomalies, molecular genetic analysis from peripheral blood was performed in late 2018 and early 2019. Following normal findings with a panel diagnostic of 18 genes associated with congenital glaucoma, whole exome sequencing was performed and revealed a novel likely pathogenic heterozygous variant c.251G>T, p.(Gly84Val) in the SOX11 gene (SRY-related HMG-box gene 11). The variant had occurred de novo. Thus, the multiple congenital anomalies and developmental delay of the patient represented Coffin-Siris syndrome 9 (CSS9, OMIM #615866).ConclusionsWhen eye diseases occur in combination with other systemic features, genetic analysis can be seminal. Results indicate that glaucoma is an occasional feature of patients with Coffin-Siris syndrome. As early treatment may improve the visual outcome of patients with glaucoma, we suggest that patients with Coffin-Siris syndrome should receive specific ophthalmological screening.

PERANAN MRI ABDOMEN PADA KASUS HERLYN WERNER WUNDERLICH

Background: Herlyn-Werner-Wunderlich syndrome (HWW) is a very rare genetic syndrome, a combination of anomalies between the mullerian and mesonephric ducts characterized by uterine didelphys, hemivaginal obstruction, and ipsilateral renal agenesis, also known as Obstructed Hemivaginal syndrome and Ipsilateral Renal Anomaly (OHVIRA). Magnetic Resonance Imaging (MRI) is an effective diagnostic support tool for finding out anatomical abdominal abnormalities with the right choice of protocol sequences to obtain optimal MRI images.
 Method: This study used a qualitative descriptive approach by presenting a case of a 20 year old female patient who had complaints of lower abdominal pain, no previous medical history and irregular menstruation. MRI Abdomen without contrast was performed using an MRI 1.5 Tesla signa explorer GE Healthcare at EMC Tangerang Hospital. Using the Coronal T2 SSFSE sequence, T1 fat sat LAVA, Axial T2 SSFSE, T1 fat sat LAVA breath hold method and Coronal 3D IFIR (MRA renal without contrast). Specifically for the pelvic area with the Axial T2 Propeller, Coronal T2 fat sat, and Sagittal T2 sequences.
 Result: In the Axial T2 propeller sequence, pelvic area retrieval revealed two separate uterine corpuses (uterus didelphys) accompanied by a heterogeneous oval lesion most likely originating from the left side of the vagina (hemivagina). Whereas in the Coronal T2 sequence the whole abdomen was taken and confirmed by the Coronal 3D IFIR, the right kidney was anatomically visible while the left kidney was not visible (agenesis).
 Conclusion: Abdominal MRI is a very accurate diagnostic tool to perform Herlyn-Werner-Wunderlich (HWW) syndrome without contrast agent with SSFSE T2 sequences, T2 propeller and 3D IFIR which have an important role in visualizing the quality of MRI images.

Application of Remote Sensing for Determination of Power Plant Area: Case Study of Lumut Balai, South Sumatra

Subduction zone located beneath Sumatra, Indonesia causes the formation of volcanic sequences, which can be associated with the potential of geothermal energy. One of them is Lumut Balai area in South Sumatra. A study of using remote sensing method was conducted as one of the preliminary methods to find out the geothermal potential in the Lumut Balai area. In this case, an analysis of regional geology maps, Landsat 8 OLI / TIRS, and digital elevation model (DEM) was carried out. The geothermal potential is obtained based on a combination of anomalies in land surface temperature (LST), the normalized difference vegetation index (NDVI), and distribution of alteration zones. The analysis of NDVI result shows the Lumut Balai area dominated by mostly moderate to high level of vegetation density up to 0.88. Whereas, the LST result shows the maximum value, which is 40.3°C located at the residential area in the north and the open land in the northwest of Lumut Balai. The correlation between the results of LST and NDVI has been shown in geothermal surface manifestations, that have vegetation less than 0.88 while the temperatures show a higher value up to 40°C than the surrounding its area. While the results of the DEM analysis provide topographic information, the slope in the study area used to determine the area for development of power plant. The power plant more likely to be located in the southwest and northeast of Lumut Balai where it has flat terrain and not in the near-fault area.

Urachal cyst and enteric duplication in a pediatric patient

Abstract Here we present an unusual case of a 3-year-old male with multiple congenital developmental abnormalities discovered during laparotomy: an urachal cyst and enteric duplication. This combination of anomalies has not been described before.

The effectiveness of dentoalveolar anomalies treatment in children during early mixed dentition period

To analyze the effectiveness of orthodontic treatment in 7-9 years old children, dental status in children residents of Moscow was compared with 15-17 years adolescents with completed bite formation. The adolescents were divided into two groups: those who received orthodontic treatment during the mixed dentition period and those who did not receive the treatment. A WHO survey chart was used to assess the dental status of children (WHO, 2013) with additional section 'Dentoalveolar anomalies'. DMFT and DMFT+dft, OHI-S, CPI, PAR, Little irregularity index and DAI were assessed in all groups. The need for dental and orthodontic treatment was calculated. Dental morbidity in Moscow children during the mixed dentition period was characterized by a high prevalence of caries (92.0%) with an intensity of 1.67±0.03, the 17.0% prevalence of premature teeth loss and dentoalveolar anomalies in 73.9% of children with a combination of anomalies in 60.8% of children. Orthodontic treatment in the mixed dentition period is associated with systematic professional control and by the age of 15 years results in two-fold reduction in the intensity of caries and periodontal disease, proper detection of poor hygiene and the lower prevalence of abnormal positioning of the teeth (crowding and misalignment of teeth) and the improvement of dental arches ratio (completely eliminating cross-bite). At the same time early orthodontic treatment has no significant effect on the prevalence of tooth rotation, interdental spaces, deep, open, distal, mesial occlusion and displacement of dental arches. Orthodontic treatment of children during the mixed dentition period is indicated in cases of crowding and displacement of teeth, as well as cross-bite; with respect to other types of dentoalveolar anomalies, early orthodontic treatment is only justified by the severe impact of dentoalveolar anomalies on psychological and functional indicators.

The modern methods of X-Ray based diagnostic in cases of ectopia cordis associated with pentalogy of Cantrell

Pentalogy of Cantrell with ectopia cordis is an extremely rare and lethal congenital anomaly included congenital hearth disease (CHD), midline supraumbilical abdominal wall defect, defect of lower sternum part, deficiency of the anterior diaphragm, a defect in the diaphragmatic pericardium. The complexity of this syndrome is usually incompatible with life. Depending on the location of the protruding heart and on the extent of the body wall defect, ectopia cordis may be grouped into cervical, thoracic, thoracoabdominal, or abdominal types. The heart mostly uncovered, covered with a serous membrane less often, and covered with skin rare. Depending on combination defects pentalogy of Cantrell classified for 3 different classes by Toyama (classified in 1972): 1 class – complete syndrome (all five defects), 2 class – probable syndrome (included intracardial defect and ventral abdominal wall defect) 3 class – incomplete syndrome (with various combinations of defects present, including a sternal abnormality). Presented clinical case newborn pentalogy of Cantrell first Toyama class. We used X-Ray for firstly diagnostic, for visualization CHD was performed CT. For postnatal diagnostic CHD are used Echo and CT. CT allows graphically to see the type of CHD and predict a surgical treatment. The strategy of surgical treatment and further prognose are depend on combination of anomalies within the framework of pentalogy of Cantrell. By CT we determined atresia of the pulmonary artery with major aorto-pulmonary collateral arteries (MAPCA), ventricular and atrial septal defects.

Ectopic Scrotum with VACTERL Association.

Scrotal ectopia is a rare condition. Associated anomalies are common. We describe a neonate with ectopic scrotum with VACTERL association. This combination of anomalies is very rare.

Aortic arch advancement for type A interrupted aortic arch with persistent fifth aortic arch type B

Persistence of the fifth aortic arch is a very rare anomaly, but is clinically relevant when it is associated with coarctation. We report a case of a neonate with type A interrupted aortic arch and severe coarctation of a persistent fifth aortic arch, which was discovered after repair of a left congenital diaphragmatic hernia. The combination of anomalies was discovered intra-operatively following left thoracotomy, and was treated with aortic arch advancement. The postoperative course was uneventful.

A Case of Mirror-image Dextrocardia and Situs Inversus Totalis Associated with Tetralogy of Fallot with Patent Ductus Arteriosus with Normal L-loop, Atrioventricular and Ventriculo-arterial Concordance, and Right Aortic Arch: Main Surgeon at Assistant Side

Although statistically people with dextrocardia and situs inversus totalis have fewer chances of any congenital cardiac abnormalities; however, its association with tetralogy of fallot (TOF) and patent ductus arteriosus is reported only rarely and can present technical challenges to intracardiac repair. This combination of anomalies is extremely unusual. We report a case of successful surgical treatment of TOF with dextrocardia and situs inversus totalis in a 35-year-old male, and describe the patient's postoperative course, and review the surgical literature relevant to these combined conditions with unbelievable presentation history.

Prenatal imaging of a fetus with the rare combination of a right congenital diaphragmatic hernia and a giant omphalocele

A co-existing right congenital diaphragmatic hernia and omphalocele is rare. We present images of a fetus diagnosed with this rare combination of anomalies. Early neonatal death occurred immediately after full-term birth due to severe respiratory insufficiency. In this case, disturbance of chest wall development due to the omphalocele rather than the diaphragmatic hernia was considered as the main cause of lung hypoplasia. Our experience suggests that caution should be exercised for severe respiratory insufficiency in a neonate with an omphalocele and diaphragmatic hernia, even in the absence of an intra-thoracic liver, one of the indicators of poor outcome for congenital diaphragmatic hernia.

Goldenhar syndrome: A case report with facial ocular auricular vertebral manifestations

Goldenhar’s Syndrome (GS) is a rare condition described initially by Von Arlt. It is characterized by a combination of anomalies: epibulbar tumors, preauricular tags and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo-vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The malformations are said to arise from the first and second branchial arches. This work reports a case of GS in 11-years-old boy with the clinical signs of pseudo macrostomia, preauricular tags and epibulbar tumours.

Diprosopus dirrhinus: A rare case report

Diprosopus or craniofacial duplication is an extremely rare craniofacial anomaly. It is the rarest form of conjoined twins. One of the types of incomplete facial duplication is the duplication of nose known as diprosopus dirrhinus, of which there is only a single case report from India to date. In the present article, the authors describe a 5-year-old boy having diprosopus dirrhinus with severe hypertelorism, right cleft 12 and right upper eyelid coloboma, a combination of anomalies which have not been reported to date.

Thyrolinguofacial trunk arising from the carotid bifurcation determined by cadaver dissection

Knowledge of the arterial variations in the neck region may be of great importance in the diagnosis and treatment of cervical and maxillofacial pathologies. We report on a male cadaver found to have a superior thyroid, lingual and facial artery arising with a common trunk from the relatively high carotid bifurcation on the right side. After branching off the superior thyroid artery, the linguofacial trunk divided in the submandibular region into the lingual and the facial artery. The embryogenesis of such a combination of anomalies is not clear, but the anatomic consequences may have important clinical implications for radiologic examinations and surgical procedures in the regions of the head and neck.