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Medicina
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Variational Anatomy and Developmental Anomalies in Clinical Practice: Second Edition
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Variational Anatomy and Developmental Anomalies in Clinical Practice: Second Edition

A special issue of Medicina (ISSN 1648-9144).

Deadline for manuscript submissions: closed (30 June 2023) | Viewed by 18507

Special Issue Editors

Prof. Dr. Ivan Varga

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Guest Editor
Head of Institute of Histology and Embryology, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia
Interests: clinical embryology; clinical anatomy; congenital anomalies; developmental biology; anatomical variations; histological terminology
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Niels Hammer

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Guest Editor
Head of Institute of Macroscopic and Clinical Anatomy, Medical University of Graz, Graz, Austria
Interests: anatomy teaching; clinical anatomy; embalming techniques; head biomechanics; pelvis biomechanics; peripheral neuroanatomy
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. David Kachlík

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Guest Editor
Head of Department of Anatomy, Second Faculty of Medicine, Charles University, Prague, Czech Republic
Interests: clinical anatomy; anatomical variations; anatomical terminology; anatomical nomenclature; variational terminology; congenital anomalies
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In 2020, we launched a very interesting Special Issue entitled "Variational Anatomy and Developmental Anomalies in Clinical Practice". In this Special Issue, 12 different high-quality articles were published, most of which have ben cited several times. The application of anatomical and embryological knowledge to clinical practice proved to be very interesting for many anatomists, medical doctors and scientists. This is why we believe that it is the right time to start with the second part of this Special Issue.

Anatomists and physicians of different medical specialties occasionally stumble upon an anatomical peculiarity of an organ or other structure that deviates from what is considered “the norm”. In most cases, these discoveries are coincidentally made during an anatomical dissection, surgery, or when examining a patient clinically. Anatomical variants represent deviations from the accepted standard human anatomy found in classical textbooks. Variations generally have no effect on the function of an organ under normal circumstances. Congenital anomalies (developmental defects), in contrast, are malformations that often have a negative influence on organ function. The cognition of variations and developmental anomalies is important, not only as an occasion for clinicians to broaden their knowledge, but also for providing an invaluable opportunity for all of us to understand embryology and comparative anatomy more deeply.

Most of us were born “normal” from a morphological point of view. Given the importance of anatomical variation and developmental anomality in the field of medicine and clinically oriented research, the journal Medicina is launching the Second Edition of this Special Issue. The purpose of this Special Issue is to provide a broad overview of human anatomical variations and developmental anomalies, especially for anatomists, surgeons, and radiologists, but also for experts in all fields of allied disciplines related to medicine. These scientific articles will provide new insight into the mechanisms of human malformation, with descriptions of their diagnostics and possible treatment.

It is our pleasure to invite you to submit your manuscript for publication in this Special Issue. Full papers, communications, case reports, and reviews are all welcome.

Prof. Dr. Ivan Varga
Prof. Dr. Niels Hammer
Prof. Dr. David Kachlík
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Medicina is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

 

Keywords

  • variational anatomy
  • congenital anomalies
  • clinical anatomy
  • clinically oriented embryology
  • human development
  • surgical anatomy
  • radiologic anatomy

Published Papers (9 papers)

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12 pages, 4509 KiB  
Article
The Course and Variation of the Facial Vein in the Face—Known and Unknown Facts: An Anatomical Study
by Martin Siwetz, Hannes Widni-Pajank, Niels Hammer, Ulrike Pilsl, Simon Bruneder, Andreas Wree and Veronica Antipova
Medicina 2023, 59(8), 1479; https://doi.org/10.3390/medicina59081479 - 17 Aug 2023
Viewed by 1748
Abstract
Background and Objectives: The facial vein is the main collector of venous blood from the face. It plays an important role in physiological as well as pathological context. However, to date, only limited data on the course and tributaries of the facial [...] Read more.
Background and Objectives: The facial vein is the main collector of venous blood from the face. It plays an important role in physiological as well as pathological context. However, to date, only limited data on the course and tributaries of the facial vein are present in contemporary literature. The aim of this study was to provide detail on the course and the tributaries of the facial vein. Materials and Methods: In 96 sides of 53 body donors, latex was injected into the facial vein. Dissection was carried out and the facial vein and its tributaries (angular vein, ophthalmic vein, nasal veins, labial veins, palpebral veins, buccal and masseteric veins) were assessed. Results: The facial vein presented a textbook-like course in all cases and crossed the margin of the mandible anterior to the masseter in 6.8% of cases, while being located deep to the zygomaticus major muscle in all cases and deep to the zygomaticus minor in 94.6% of cases. Conclusions: This work offers detailed information on the course of the facial vein in relation to neighboring structures, which shows a relatively consistent pattern, as well as on its tributaries, which show a high variability. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice: Second Edition)
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10 pages, 2678 KiB  
Article
Anatomical Variants Identified on Computed Tomography of Oropharyngeal Carcinoma Patients
by Sirorat Janta, Athikhun Suwannakhan, Laphatrada Yurasakpong, Arada Chaiyamoon, Nutmethee Kruepunga, Joe Iwanaga, R. Shane Tubbs, Pinthusorn Eiamratchanee and Tawanrat Paensukyen
Medicina 2023, 59(4), 707; https://doi.org/10.3390/medicina59040707 - 04 Apr 2023
Cited by 1 | Viewed by 1625
Abstract
Background and Objectives: Anatomical variations in the head, neck and chest are common, and are observed as occasional findings on computed tomography (CT). Although anatomical variations are mostly asymptomatic and do not cause any negative influence on the body function, they may jeopardize [...] Read more.
Background and Objectives: Anatomical variations in the head, neck and chest are common, and are observed as occasional findings on computed tomography (CT). Although anatomical variations are mostly asymptomatic and do not cause any negative influence on the body function, they may jeopardize diagnosis and may be confused with pathological conditions. The presence of variations may also limit surgical access during tumor removal. The aim of this study was to investigate the prevalence of six anatomical variations—os acromiale, episternal ossicles, cervical rib, Stafne bone cavity, azygos lobe and tracheal bronchus—in an open-access computed tomography dataset obtained from oropharyngeal cancer patients. Materials and Methods: A total of 606 upper-chest and neck computed-tomography scans (79.4% male and 20.6% female) were retrospectively investigated. Sex difference was evaluated using the z-test for two proportions. Results: Os acromiale, episternal ossicles, cervical rib, Stafne bone cavity, azygos lobe, and tracheal bronchus were present in 3.1%, 2.2%, 0.2%, 0%, 0.3% and 0.5%, respectively, of all patients. Os acromiale was identified as meso-acromion in 86.6%, and as pre-acromion in 17.4%, of all acromia. Episternal ossicles were present unilaterally in 58.3%, and bilaterally in 41.7%, of all sterna. Only the cervical rib showed a sex difference in prevalence. Conclusions: awareness of these variations is important for radiologists interpreting head, neck and chest CTs; for example, those of oropharyngeal cancer patients. This study also illustrates the applicability of publicly available datasets in prevalence-based anatomical research. While most of the variations investigated in the present study are well-known, the episternal ossicles are not well explored, and need further investigation. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice: Second Edition)
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10 pages, 875 KiB  
Article
The Prevalence and Morphology-Wise Demographic Distribution of Ponticulus Posticus on CT Scans—A Retrospective Observational Study
by Alin Horatiu Nedelcu, Andrada Hutanu, Irina Nedelcu, Simona Partene Vicoleanu, Gabriel Statescu, Liviu Gavril, Ana Maria Haliciu, Manuela Ursaru and Cristina Claudia Tarniceriu
Medicina 2023, 59(4), 650; https://doi.org/10.3390/medicina59040650 - 24 Mar 2023
Viewed by 1289
Abstract
Background and Objectives: The ponticulus posticus (PP) is a bony bridge that emerges from the posterior aspect of the superior articular process, to connect the posterior arch of the atlas. It is often associated with neurological symptoms. The aim of this study was [...] Read more.
Background and Objectives: The ponticulus posticus (PP) is a bony bridge that emerges from the posterior aspect of the superior articular process, to connect the posterior arch of the atlas. It is often associated with neurological symptoms. The aim of this study was to obtain an insight into this malformation, and prevalence in the North East region of the Romanian population. Materials and methods: This anatomical variant was analyzed through an observational and retrospective study which was carried out in St. Spiridon Hospital Iasi. The duration of the study was 10 months and, a number of 487 patients who presented neurological symptoms without cranio-cerebral traumatisms were enrolled and a computed tomography (CT) scan was performed. We proposed a new classification of PP in five types. The prevalence of PP was calculated and Skewness test, ANOVA test with Bonferroni correction, and Student’s t-test were used for statistical analysis. Results: Among the sample of 487 patients, PP was found in 170 cases (34.90%) in an age group of 8–90 years (mean age = 59.52 years, SD ± 19.94 years). Type I was found in 11.29%, followed by Type II—8.21%, Type III—5.13%, Type IV—5.54%, and Type V—4.72% (p = 0.347). It was 19.5%, mirroring the incomplete type, whereas the complete type was reported in 15.40% of cases (p = 0.347), the highest prevalence, namely 41.17% was found in the “41 to 60 years” age group, followed by 36.95% in the “21 to 40 years” group (p = 0.00148). The mean age was higher in patients with PP Type III (61.16 years, SD ± 19.98), while patients with PP Type V recorded the lowest mean age (56.48 years, SD ± 22.13). The differences between the comparative average ages on types were not statistically significant (p = 0.411). The gender and age were not good predictors of PP Type V (AUC < 0.600). Conclusion: according to our study, incomplete types of PP were found to be more prevalent as compared to complete types. No difference between males and females was detected. PP is more frequent in adults and young adults than in the elderly population. It is confirmed that gender and age were not good predictors of the bilateral complete type of PP. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice: Second Edition)
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10 pages, 1096 KiB  
Article
Vertical Levels of the Occipital Artery Origin
by Cătălin Constantin Dumitru, Sorin Hostiuc, Alexandra Diana Vrapciu and Mugurel Constantin Rusu
Medicina 2023, 59(2), 317; https://doi.org/10.3390/medicina59020317 - 08 Feb 2023
Cited by 3 | Viewed by 1289
Abstract
Background and Objectives. The occipital artery (OA) is a posterior branch of the external carotid artery (ECA). The origin of the OA is commonly referred to a single landmark. We hypothesized that the origin of the OA could be variable as referred to [...] Read more.
Background and Objectives. The occipital artery (OA) is a posterior branch of the external carotid artery (ECA). The origin of the OA is commonly referred to a single landmark. We hypothesized that the origin of the OA could be variable as referred to the hyoid bone and the gonial angle. We thus aimed at patterning the vertical topographic possibilities of the OA origin. Materials and Methods. One hundred archived computed tomography angiograms were randomly selected, inclusion and exclusion criteria were applied, and 90 files were kept (53 males, 37 females). The cases were documented bilaterally for different levels of origin of the OA origin: type 1—infrahyoid; type 2—hyoid; 3—infragonial; 4—gonial; 5—supragonial; 6—origin from the internal carotid artery (ICA). Results. The incidence of unilateral types in the 180 OAs was: type 1—1.11%, type 2—5.56%, type 3—40.56%, type 4—28.33%, type 5—23.33% and type 6, ICA origin of the OA—1.11%. There was found a significant association between the location of the left and right origins of the OAs (Pearson Chi2 = 59.18, p < 0.001), which suggests the presence of a strong symmetry of the origins. Bilateral symmetry of the vertical types of the OA origin was observed in 56.67% of cases; in 43.33% there was bilateral asymmetry. Conclusions. The ICA origin of the OA is an extremely rare variant. For surgical planning or prior to endovascular approaches the topography of the OA origin should be carefully documented, as it may be located from an infrahyoid to a supragonial level. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice: Second Edition)
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13 pages, 4336 KiB  
Article
The Fetal Type of Posterior Cerebral Artery
by Ana-Maria Davidoiu, Dragoş Ionuţ Mincă, Mugurel Constantin Rusu, Sorin Hostiuc and Corneliu Toader
Medicina 2023, 59(2), 231; https://doi.org/10.3390/medicina59020231 - 26 Jan 2023
Cited by 6 | Viewed by 2537
Abstract
Background and Objectives: Anatomical variations of the arterial circle of Willis (cW) are common. A posterior cerebral artery (PCA) fed mostly or exclusively from the internal carotid artery is a fetal PCA (FPCA), partial (p-FPCA), or full/complete (f-FPCA), respectively. Because FPCA occurs [...] Read more.
Background and Objectives: Anatomical variations of the arterial circle of Willis (cW) are common. A posterior cerebral artery (PCA) fed mostly or exclusively from the internal carotid artery is a fetal PCA (FPCA), partial (p-FPCA), or full/complete (f-FPCA), respectively. Because FPCA occurs in different anatomical configurations of the cW sides, we aimed to document in detail these morphological possibilities of FPCA within the cW. Materials and Methods: FPCAs were documented on a retrospective set of 139 computed tomography angiograms. Results: FPCAs were found in thirteen cases, nine males and four females. In 7/13 cases there were two modified sides of the cW. In 5/13 cases there were three altered sides of the cW. Another case with FPCA showed four altered sides of the cW. In 10/13 cases, FPCA was unilateral and in the other three cases it was bilateral. Compared to the overall group, unilateral p-FPCAs were found in 1.43%, while unilateral f-FPCAs were found in 5.75%. A bilateral p-FPCA-f-FPCA combination was found in 0.71% and a bilateral f-FPCA-f-FPCA combination occurred in 1.43%. An anatomically isolated ICA was found in just one case with bilateral f-FPCA (0.71%). In 7/13 FPCA cases there were arterial variants exclusively in the posterior cW. In the other 6/13 FPCA cases, there were variants in both anterior and posterior circulation. There were no statistically significant associations of FPCA with sex or age. The higher prevalence of right-sided FPCA was not statistically significant. Conclusions: Anatomical assessments of cW should be performed on a case-by-case basis, as they may correspond to different cW morphologies. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice: Second Edition)
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13 pages, 5438 KiB  
Article
Morphological Peculiarities of the Pelvic Autonomic Nervous System and Their Impact on Clinical Interventions in the Lesser Pelvic Region
by Roman Kuruc, Andrea Szórádová, Jarmila Kristová, Martina Solárová, Jozef Šidlo and Viktor Matejčík
Medicina 2023, 59(1), 72; https://doi.org/10.3390/medicina59010072 - 29 Dec 2022
Cited by 1 | Viewed by 1771
Abstract
Background: The aim of the work is to define the morphological peculiarities of the pelvic autonomic nervous system (ANS) and their importance in the clinical and surgical interventions in the lesser pelvis. Material and methods: Anatomical variations in the formation of [...] Read more.
Background: The aim of the work is to define the morphological peculiarities of the pelvic autonomic nervous system (ANS) and their importance in the clinical and surgical interventions in the lesser pelvis. Material and methods: Anatomical variations in the formation of the pelvic ANS were observed in 20 cadavers. The study included 17 men (85%), aged 18 to 84, and 3 women, aged 27 to 86. The average age was 53.8 years. The subjects most often died by violent death in car accidents, by asphyxia, or by sudden death. The study was approved by the Ethics Committee of the Health Care Surveillance Authority, Bratislava, Slovakia. We studied cadavers without congenital or detected anomalies, cancer, deformities of the body, or spinal or abdominal surgeries within 24 h of death. We observed a relationship between the dimensions and the number of ganglia, as well as the number and course of nerve branches and anastomoses. In the pelvic area, we observed the hypogastric plexus superior, hypogastric plexus inferior, and the truncus sympathicus. In all cadavers, we clarified the lumbosacral plexuses after evisceration. In the lumbosacral region, the roots were defined based on their participation in the formation of the plexuses. To show the intimate relationship between both systems, we also focused on the details of the structure (rami communicantes) related to the connections of the ANS with the spinal nervous system. Results: Anatomical variations in the formation of the pelvic ANS were observed in all cases. We included cases with more than two truncus sympathicus ganglia as the segmental type. The segmental form occurred in 14 (70%) cases, and was concentrated in 6 (30%) cases. Rami communicantes provided anastomoses to the spinal nerves. Small ganglia were observed on the rami communicantes. With the concentrated type, we observed the division of the sympathetic and parasympathetic systems. With the segmental and concentrated forms, symptoms of the “diffuse form” may occur, which we observed in all cases. We observed significant right-left asymmetry and differences in the formation of ganglia and anastomoses. Conclusions: This study allowed us to identify and describe the morphological peculiarities of the pelvic ANS and their possible influence on the clinical picture. Asymmetry and dependence of their occurrence on the type of ANS was observed. The variations were frequent. Their preoperative diagnosis is difficult to impossible. The absence or lack of intraoperative vigilance can lead to the damage of pelvic ANS during operations and blockades of the pelvic plexus. The acquired knowledge can be helpful in clarifying clinical signs and symptoms of these conditions. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice: Second Edition)
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8 pages, 1226 KiB  
Case Report
Camptodactyly: From Embryological Basis to Surgical Treatment
by Jan Kloc, Boris Dzula, Ivan Varga, Martin Klein and Boris Steno
Medicina 2023, 59(5), 966; https://doi.org/10.3390/medicina59050966 - 17 May 2023
Viewed by 2167
Abstract
Camptodactyly is a relatively rare hand deformity presenting as the proximal interphalangeal joint’s nontraumatic and progressive flexion contracture. Most cases are limited to the fifth finger. The severity and type of camptodactyly should be considered to optimize treatment. Since many structures at the [...] Read more.
Camptodactyly is a relatively rare hand deformity presenting as the proximal interphalangeal joint’s nontraumatic and progressive flexion contracture. Most cases are limited to the fifth finger. The severity and type of camptodactyly should be considered to optimize treatment. Since many structures at the finger base can be involved in the pathogenesis of the deformity, surgical treatment for this particular type of deformity is challenging. This paper aims to bring insight into camptodactyly’s pathogenesis and treatment options. We discuss the indication and pitfalls of surgical treatment options for particular camptodactyly types and present a case of a fourteen-year-old boy who was admitted to our department with proximal interphalangeal joint flexion contracture of the left fifth digit. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice: Second Edition)
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6 pages, 2702 KiB  
Brief Report
New Insights into the Communications of the Facial Vein with the Dural Venous Sinuses
by Martin Siwetz, Hannes Widni-Pajank, Niels Hammer, Ulrike Pilsl, Simon Bruneder, Andreas Wree and Veronica Antipova
Medicina 2023, 59(3), 609; https://doi.org/10.3390/medicina59030609 - 19 Mar 2023
Cited by 1 | Viewed by 2856
Abstract
Background and Objectives: Anastomoses of the extracranial and intracranial venous system have been described in the literature. The presence of such anastomoses may facilitate a possible spread of infection into the dural venous sinuses. However, the frequency and relevance of such anastomoses [...] Read more.
Background and Objectives: Anastomoses of the extracranial and intracranial venous system have been described in the literature. The presence of such anastomoses may facilitate a possible spread of infection into the dural venous sinuses. However, the frequency and relevance of such anastomoses is highly debated. The aim of this study was to quantify frequencies of anastomoses between the facial vein and the dural venous sinuses. Materials and Methods: In 32 sides of 16 specimens, latex was injected into the facial vein. Dissection was carried out to follow and described these anastomoses, yielding the presence of latex in the intracranial venous system. Results: In 97% of cases, a dispersal of latex into the cavernous sinus as well as anastomoses was observed. A further dispersal of latex into other dural venous sinuses was found at rates ranging between 34% (transverse sinus)—88% (superior petrosal sinus), respectively. Conclusions: The presence of anastomoses between the extracranial and intracranial venous system in a majority of cases needs to be considered when dealing with pathologies as well as procedures in the facial region. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice: Second Edition)
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10 pages, 2975 KiB  
Case Report
Congenital Proximal Radioulnar Synostosis in an Elite Athlete–Case Report
by Ilja Chandoga, Róbert Petrovič, Ivan Varga, Boris Šteňo and Emὄke Šteňová
Medicina 2023, 59(3), 531; https://doi.org/10.3390/medicina59030531 - 08 Mar 2023
Cited by 1 | Viewed by 2037
Abstract
Background and Objectives: Proximal radioulnar synostosis (PRUS) is the most frequent congenital forearm disorder, although the prevalence in the general population is rare with a few hundred cases reported. Pfeiffer, Poland, Holt–Oram, and other serious congenital syndromes contain this abnormality. Non-syndromic cases [...] Read more.
Background and Objectives: Proximal radioulnar synostosis (PRUS) is the most frequent congenital forearm disorder, although the prevalence in the general population is rare with a few hundred cases reported. Pfeiffer, Poland, Holt–Oram, and other serious congenital syndromes contain this abnormality. Non-syndromic cases with isolated PRUS very often exhibit as SMAD6, NOG genes variants, or sex chromosome aneuploidy. A subgroup of patients with haematological abnormalities presents with HOXA11 or MECOM genes variants. Case report: We present a non-syndromic adult elite ice-hockey player with unilateral proximal radioulnar synostosis of the left forearm. In early childhood he was able to handle the hockey stick only as a right-handed player and the diagnosis was set later at the age of 8 years due to lack of supination. Cleary–Omer Type III PRUS was found on x-ray with radial head hypoplasia and mild osteophytic degenerative changes of humeroulnar joint. Since the condition had minimal impact on sports activities, surgical intervention was not considered. The player continued his ice-hockey career at the top level and joined a national team for top tournaments. Upper extremity function assessment with questionnaires and physical testing resulted in minimal impairment. The most compromised tool was the Failla score with 10 points from a total of 15. Genetic testing with Sanger sequencing revealed no significant pathogenic variant in SMAD6, NOG, and GDP5 genes. No potentially pathogenic copy number variants were detected by array-based comparative genomic hybridization. Conclusions: In the reported case, the ability of an athlete to deal with an anatomic variant limiting the forearm supination is demonstrated. Nowadays, a comprehensive approach to rule out more complex musculoskeletal impairment and family burden is made possible by evolving genetics. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice: Second Edition)
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