Developmental Anomalies Research Articles

Reawakened Sexual Interest: The Result of Surgical Correction of Concealed Penis

Concealed penis (CP) is a developmental anomaly in which the penis is hidden in the skin of the abdomen, thigh or scrotum. As a result of this, the penis appears shortened in length. It was first described by Keyes Jr. E.L. in 1919. It can be associated with voiding problem and in adults, sexual issues, among others. Objective: To show that surgery can reverse celibacy induced by CP and highlight the need for an interdisciplinary approach to correction of this anomaly. Patient and Method: A thirty-one-year male patient who had a surgical release of his buried penis by two surgeons in 2019 in a private hospital. The case note was reviewed, the data obtained analyzed and the results including photographs, were presented. The patient was followed up. Result: A 10 cm length of penis and a hundred percent (100%) take of sheet of split skin graft used to resurface the denuded penis were achieved using combined spinal and epidural anesthesia. The patient, his mother and the surgeons were satisfied with the outcome. Consequently, he resolved to marry a wife after all. Conclusion: Concealed penis can now be regarded as a known cause of celibacy and surgical correction can reverse the celibate state.

Venous infarction due to developmental venous anomaly with arteriovenous shunt.

File S1 File S2 Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Talon Cusp, Tooth Transposition, Taurodontism-Occurrence of “T Anomalies” Together in a Non-Syndromic Child-A Rarest Case Report

Presenting of rare and unusual dental anomalies is always essential to enhance the richness of existing dental literature pertaining to these anomalies. Developmental dental anomalies starting from the alphabet ‘T’ such as Talon cusp, Transposition and Taurodontism are the uncommon dental phenomenon’s which are reported individually. However, occurrence of all these anomalies together is not reported so far. Therefore, the purpose of the present article is to report occurrences of all these dental anomalies together in detail in a 9-year-old, normal, healthy Indian male patient.

An Erupted Compound Odontoma: A Rare Clinical Entity

ABSTRACT Odontomas are the most common developmental hamartomatous anomalies that are caused due to the growth and development of completely differentiated epithelial and mesenchymal cells, which give rise to functional odontoblasts and ameloblasts. These cells lay down enamel and dentin, respectively, in an abnormal pattern mainly due to the failure of the cells to reach a normal state of morphodifferentiation. The exact etiology of odontomas is currently unknown; however, they have been related to localized trauma and various other hereditary conditions. They are typically asymptomatic and are usually detected as a chance radiographic finding. This condition is frequently associated with one or more unerupted teeth and is often detected through a failure of teeth to erupt during an expected timeframe.

Craniosynostosis: Existing and Restructuring of Rehabilitation

Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. Restricted normal growth of the skull can lead to increased intracranial pressure and changes in brain morphology, which in turn may contribute to neurocognitive deficiency. The management of craniosynostosis, especially in the setting of craniofacial syndromes, is ideally done in a multidisciplinary clinic with a team focused toward comprehensive care. However, evidence has suggested the role of physical therapy in managing craniosynostosis, especially deformational plagiocephaly. The present review aims to find relevant evidence-based studies regarding the role of physical therapy in managing neonates with deformational plagiocephaly.

Пороки развития половых органов у девочек от классификаций до диагностики: современное состояние вопроса

Congenital anomalies (malformations) of the female genital tract are persistent intrauterine deviations from norm variations of size, shape, proportions, symmetry, topography and organogenesis, resulting in their function disorder. Congenital anomalies of the female genital tract account for 14% of all congenital malformations and 3–7% of gynecological disorders in children and adolescents. Currently, there are a number of unresolved issues related to the systematization and diagnosis of such anomalies. The article presents an up-to-date and carefully selected information on this topic and highlights existing difficulties that require further study. The literature review is aimed at searching for relevant classifications and modern diagnostics for congenital anomalies of the female genital tract for further personalized treatment tactics. Literature analysis has shown that the etiology and pathogenesis of congenital anomalies of the female genital tract are complex, heterogeneous and understudied. To date, there is no single generally accepted classification of congenital anomalies of the female genital tract, while the proposed article presents modern methods for diagnosing this pathology and the subtleties concerning the results interpreting for a correct diagnosis. KEYWORDS: congenital anomalies, developmental anomalies of the female genital tract, classification, diagnosis. FOR CITATION: Adamyan L.V., Sibirskaya E.V., Pivazyan L.G., Davydova Y.D., Tarlakyan V.A. Developmental anomalies of the female genital tract from classifications to diagnosis: current issue state. Russian Journal of Woman and Child Health. 2023;6(4):425–432 (in Russ.). DOI: 10.32364/2618-8430-2023-6-4-16.

Estimación forense de la edad basada en el estudio de la epífisis proximal de la clavícula. Actualización y factores de interferencia

Forensic Age Estimation in migrant minors without family reference is a developing field within forensic sciences. The international and national action guides recommend for this expert reports the practice of multiplanar medical imaging studies, more precisely computed tomography, of the proximal end of the clavicle. This type of test is reserved for those cases in which a possible majority of the supposedly minor cannot be ruled out by other methods. This diagnostic test has peculiarities derived from its relative complexity of interpretation and the relatively high frequency of appearance of developmental anomalies that make it difficult to apply it as a test of expert value. This review aims to be an update of the state of the art in this field of expertise with a special focus on its expert value and the impact generated by the aforementioned anomalies in its practical application.

Cornea plana in a family from Pakistan: Case series and literature review on the principles of management.

Cornea plana (CP) is a rare ocular condition existing in two distinct clinical and hereditary forms: a milder, autosomal dominant type I and a more severe, autosomal recessive type II. The condition is more commonly found in Finnish, Saudi, and Czech families. We report three brothers from a consanguineous marriage that presented with complaints of decreased vision of varying degrees. All three of them have blue, thick, and hazy corneas with shallow anterior chamber depths. The additional features of CP type II were seen in the older two brothers including arcus lipoids, ill-demarcated limbus, and an accommodative squint. They were managed by the correction of refractive errors through spectacles and detailed counseling with follow-up visits to look for progressive complications. The management is mainly centered around optically or surgically correcting the developmental anomalies. This is complimented with proper genetic counseling and regular follow-up visits to look for and manage complications. There are, however, novel therapies that can be considered in these patients including corneal transplants or corneal stromal stem cellular therapies.

Multiple Compound Odontomas in A 13 -Year-Old- Child: A Case Report

Many developmental anomalies of the jaw are accidentally diagnosed during radiographic investigations for other symptoms. Odontomas are benign odontogenic tumors formed from epithelial and mesenchymal cells. They are mostly associated with disorders of tooth eruption, causing impaction and/or delayed tooth eruption. This article describes a case of a 13-year-old boy consulted for the delayed eruption of tooth #21, and discusses the fortuitous discovery of multiple odontomas on a radiographic examination. The treatment consisted on the surgical extraction of the multiple compound odontoma with preservation of the impacted tooth, monitoring clinically and radiologically its eruption followed by ultimate orthodontic positioning. Routine follow-up was carried out for more than 3 years. Early diagnosis of odontomas allowed adoption of less expensive treatment and ensured a better prognosis.

Mandibular impacted supernumerary premolar case report

Dental developmental anomalies include diverse conditions that may arise due to changes during teeth development. Supernumerary teeth in the premolar region rarely occur (8%–9.1%). The present study, reports an incidence of impacted supernumerary tooth in the mandibular premolar region in a subjectively symptomless, nonsyndromic patient. Cone-beam computed tomography is highly effective in detecting and localizing supernumerary teeth. Furthermore, it enhances decision-making and clinical findings regarding interventions. In addition to the possibility of multiple complications, supernumerary teeth require prompt diagnosis and treatment.

Morphological Variations of the Lumbricals in Adult Cadaveric Hand: A Cross-sectional Study

Introduction: The development of the human hand is unprecedented. Despite being tiny in size, the lumbricals play a far more significant role in the dynamic actions of the fingers. At the Metacarpophalangeal (MCP) and interphalangeal joints, they do flexion and extension. Lumbricals also exhibit some variations of developmental anomalies in attachments and morphology. Aim: To classify morphological patterns of the lumbrical muscles and their anatomical variations in the hands and to discuss their clinical implications. Materials and Methods: This cross-sectional study was conducted in the Department of Anatomy of Aarupadai Veedu Medical College and Hospital, Puducherry, India, from July 2020 to July 2021 on 50 disarticulated upper limbs during routine dissection of cadavers. In the present study, the limbs were labelled R or L for right or left, M or F for male or female. The variation in origin (including architecture), insertion (including split insertions, misplaced insertions, or absence of muscles, and the lengths of the muscle belly and tendon of all lumbricals were studied and noted. The dissection was carried out based on the steps as per Cunningham’s manual. Analysis of the data was done using Microsoft Excel software 2016. Results: In this study, 86% of the lumbricals were found normal in origin, innervation and insertion. Split insertion in the 3rd lumbrical was seen in 6% of the lumbricals, and a unipennate in the fourth lumbrical was seen in 2% of the total specimens. In 2% of the specimens, the 4th lumbrical was absent, the 1st lumbrical was hypertrophied in 2%, and the accessory belly in the 2nd lumbrical was also observed in 2%. Conclusion: The findings of this research may provide light on the role of the lumbrical muscles in diagnostic and surgical procedures involving the hands.

Type III dens in dente (dens invaginatus) as a reason for endodontic treatment failure - case report

Introduction. Dens invaginatus is an infrequent developmental anomaly of teeth with an unknown etiology. The prevalence rate ranges from 0.25% to 10%. The most affected teeth are lateral maxillary incisors. Various classifications have been proposed to categorize the different types of dens in dente. However, the Oehlers classification, named after the dentist who first described it, is the most commonly used for this malformation. This classification has three primary types and was introduced in 1957. Case Report. A 17-yearold female patient appeared at the Dentistry Clinic of Vojvodina, Novi Sad with a lateral maxillary incisor exhibiting dens invaginatus (Oehlers type IIIA). The pulp was necrotic, accompanied by a large periradicular lesion. The patient had previously been prescribed penicillin antibiotics, and we initiated endodontic therapy. The patient returned for the scheduled check-up appointment with swelling in the area of the canine fossa above the upper left lateral incisor. In consultation with an oral surgeon, the tooth was extracted with purulent content. Four days after the extraction, the patient received a resin bonded bridge. Conclusion. The clinical significance and importance of dens in dente lie primarily in its potential to manifest with various symptomatic indications and its association with the occurrence and development of dental caries. It is crucial for clinicians and dental professionals to remain highly attentive, vigilant, and alert to the potential presence of dens in dente. This involves considering and acknowledging the wide array of diverse presentations and manifestations that this anomaly can exhibit.

Is Brain MRI Essential for the Evaluation of Headache in Patients with Normal Neurological Examination?

Aim: Headache is amongst the most common reasons of consulting a doctor. In addition to impairing the quality of life of the individual, there are societal as well as fiscal outcomes like workforce loss along with health expenditures. MRI findings of patients with headache were examined retrospectively through the relevant literature with a view to scrutinizing the necessity of the very procedure carried out, and the results were shared accordingly. Through our study we delved into the recent situation in our country and investigated whether MRI devices with advancing and novel technologies give dissimilar results with diffusion and sensitivity-weighted images in the MRI findings of patients who seek medical advice visiting a health institution with complaint of headache. Materials and Methods: The study included 224 patients over the age of 18, who underwent brain MRI between January 2020 and December 2021 in our center, with normal findings on neurological examination and who had not undergone surgery. All abnormal appearances such as mass, metastasis, aneurysm, hydrocephalus, encephalitis, sinusitis, mastoiditis, otitis, which may cause secondary headache, were recorded in MR images. Results: Of the 224 patients, 120 (53.57%) were male and 104 (46.43%) were female. The mean age was 39.45±12.55 years. None of the 224 examinations revealed mass suspicious for malignancy, aneurysm, encephalitis, or meningitis. Extraaxial mass lesion compatible with meningioma was detected in 3 patients (1.33%), arachnoid cyst in 3 patients (1.33%), and developmental venous anomaly in 2 patients (0.89%). There was paranasal sinus infection in 145 patients (64.73%), mastoiditis in 37 patients (16.52%), and otitis in 8 patients (3.57%). The remaining 66 patients had no MRI findings except ischemic-gliotic changes, enlarged perivascular distances, and physiological calcifications. Conclusion: In studies designed according to CT and MRI examinations taken regardless of neurological examination and history, the rate of completely normal findings is quite high, as in our study. MRI scans conducted for these patients, who can indeed solely be diagnosed with examination or simpler imaging methods, lead to loss of time and money. In order to fix the said situation, we are of the opinion that the red flag practice should become widespread and nonessential examination requests should be supervised.

ANOMALIES OF FEMALE REPRODUCTIVE ORGANS

Anomalies of the genital tract, which is one of the most important problems of the reproductive system in women, is a condition that affects the whole life. It is examined in two ways as developmental anomalies of female reproductive organs and acquired disorders. Developmental disorders of female reproductive organs cause menstrual disorders, infertility and hereditary disorders that can continue throughout life, starting from adolescence and adolescence. Acquired disorders include pelvic organ prolapse and urinary incontinence. Pelvic organ prolapse is defined as the downward displacement of the structures in the pelvis due to anatomical and functional disorders of the structures supporting the pelvic organs; Urinary incontinence is a common problem that is often underreported in women due to its embarrassing nature and added social stigma. In such situations that affect their quality of life, women need physical and psychological support. In order to evaluate the patients and to achieve success in the treatment, the doctor and the nurse should support the patient. In this review, developmental anomalies of genital organs, acquired disorders of reproductive organs and classification of reproductive health problems, risk factors, symptoms, diagnosis and treatments are discussed among gynecological problems in women.

Endoscopic interventions for pancreas malformations and diseases in children

Introduction. Malformations and diseases of the pancreas are associated with the risk of complications. Interventional endoscopy is one of the ways to solve this problem.Material and methods. 24 patients (3–17 y.o.) were included in the study. 36 interventional endoscopic interventions were performed. Results. Transpapillary interventions were performed in 10 patients, all of them had anomalies of the ductal system. Stenosis of the distal pancreatic ducts was detected in 3 cases, in which stenting of the Wirsung duct was performed. Virsungolithiasis was confirmed in 3 cases, in which an anomaly of the ducts in the form of an incomplete split gland was detected in 2 patients. Pancreas divisum was detected in 1 patient, which required sphincterotomy of the minor duodenal papilla. Transmural interventions were performed in 13 cases: puncture – in 7 patients with intra- or parapancreatic cystic formations; drainage – in 6 patients with pancreatic pseudocysts. One child with traumatic rupture of the pancreas had a combined intervention (transpapillary and transmural). Discussion. The etiology of pancreatitis in children is associated with developmental anomalies and genetic factors. The leading pathogenetic factor in the development of complications is hypertension in the ducts of the gland. Traditional surgical interventions for pancreatitis are often traumatic and are accompanied by a high risk of complications. The introduction of minimally invasive techniques, such as interventional endoscopy, can solve the problem in some diseases of the pancreas.Conclusion. Transpapillary interventions can effectively eliminate hypertension in the pancreatic ducts in case of their dilatation and virsungolithiasis. Transmural interventions can be used to clarify the etiology of pancreatic cysts, as well as to drain pancreatic pseudocysts.

The current state of the problem of myocardial bridges

Myocardial bridge (MB) a congenital developmental anomaly of the coronary arteries (CA), in which the epicardial segment of the vessel passes under the myocardium. With this anomaly, any CA can be affected, but most often it is located in the left anterior descending artery. Most MB is associated with an asymptomatic course, however, in the available scientific literature about the problem of MB, there are a lot of publications describing and proving the relationship between MB and symptoms of myocardial ischemia, including cases of acute coronary syndrome and sudden cardiac death. In this review the authors summarize and present modern data of the frequency, pathophysiological mechanisms, anatomical, functional and clinical evaluation, as well as treatment of MB. Medical treatment is usually an effective therapy in patients with symptomatic MB. If it is ineffective, a comprehensive anatomical and functional assessment of the MM should be carried out to select the safest and most effective revascularization technique. Percutaneous coronary intervention with new generation stent, coronary artery bypass grafting and myotomy are currently being considered as a treatment strategy for MB. The lack of generally accepted recommendations obviously makes it necessary to conduct further research in the field of the problem under consideration in order to develop and validate unified algorithms for the diagnosis and treatment of patients with MB.

Average treatment effect of maternal prenatal tobacco smoking on offspring developmental vulnerability in early childhood

BackgroundEarly childhood developmental vulnerability has been closely related to the predictors of relatively good health, social and educational outcomes later in adulthood. However, the impacts of prenatal tobacco exposure on childhood developmental vulnerability have been rarely examined. Further, a few of the studies that have investigated maternal prenatal tobacco smoking and child developmental vulnerability have reported mixed results and there are currently no published estimates derived from causal epidemiological methods. MethodsWe conducted a retrospective population-based cohort study on the association between maternal prenatal tobacco smoking and developmental vulnerability in children born in Western Australia (WA). De-identified individual-level maternal, infant and birth records were obtained from the Midwives Notification System (MNS), a statutory record of all births in WA. WA register for Developmental Anomalies (WARDA) were also obtained from the WA Data Linkage. Records on early childhood developmental vulnerability at the median age of 5 years were obtained from the Australian Early Development Census (AEDC). We used a doubly robust estimator to estimate the causal effects. ResultsComplete data were available for 64,558 mothers-children's pairs. Approximately 16% of children were exposed to maternal prenatal tobacco smoking. Children exposed to maternal prenatal tobacco smoking were more likely to be classified as developmentally vulnerable/at-risk on the physical health and wellbeing (RR = 1.40, 95%CI:1.36–1.45), social competence (RR = 1.42, 95%CI: 1.38–1.47), emotional maturity (RR = 1.34, 95%CI:1.30–1.39), language and cognitive skills (RR = 1.50, 95%CI:1.45–1.54), and communication skills and general knowledge (RR = 1.37, 95%CI:1.33–1.42) domains. ConclusionMaternal prenatal exposure to tobacco may influence early childhood developmental vulnerability. Early intervention to quit tobacco smoking before becoming pregnant could potentially reduce later childhood developmental vulnerability on multiple domains.

The prevalence and characteristics of and the association between MIH and HSPM in South-Western France.

Molar-incisor hypomineralisation (MIH) and hypomineralised second primary molars (HSPM) involve qualitative structural developmental anomalies of tooth enamel, affecting the first permanent molars (FPM) and the second primary molars, respectively. This developmental anomaly of systemic origin has important consequences for oral health. To determine the prevalence of MIH and HSPM in south-western France and explore the distribution of hypomineralised lesions on permanent and primary molars. Amongst 856 children (aged 7-9 years) in schools randomly selected by the Academy of Bordeaux (Ministry of Education), the FPM, permanent incisors and the second primary molars were examined by two examiners trained and calibrated for the diagnostic criteria for MIH and HSPM of the European Academy of Paediatric Dentistry. Molar-incisor hypomineralisation was present in 160 children (18.7%) and HSPM in 81 children (9.5%); 4.9% had both HSPM and MIH (42 of 856). Hypomineralised lesions were present in 1-4 FPM in affected individuals (mean=2.4) and were distributed in an asymmetrical manner with widely varying severity at the tooth and individual level. A child with HSPM was more likely to have MIH than a child without HSPM (95% CI OR=6.0 [3.7-9.7]; p < .0001). Molar-incisor hypomineralisation and HSPM have three main asymmetrical characteristics: tooth location, severity of hypomineralisation and number of teeth affected.

Temporomandibular Joint Osteoarthritis: Pathogenic Mechanisms Involving the Cartilage and Subchondral Bone, and Potential Therapeutic Strategies for Joint Regeneration

The temporomandibular joint (TMJ) is a specialized synovial joint that is crucial for the movement and function of the jaw. TMJ osteoarthritis (TMJ OA) is the result of disc dislocation, trauma, functional overburden, and developmental anomalies. TMJ OA affects all joint structures, including the articular cartilage, synovium, subchondral bone, capsule, ligaments, periarticular muscles, and sensory nerves that innervate the tissues. The present review aimed to illustrate the main pathomechanisms involving cartilage and bone changes in TMJ OA and some therapeutic options that have shown potential restorative properties regarding these joint structures in vivo. Chondrocyte loss, extracellular matrix (ECM) degradation, and subchondral bone remodeling are important factors in TMJ OA. The subchondral bone actively participates in TMJ OA through an abnormal bone remodeling initially characterized by a loss of bone mass, followed by reparative mechanisms that lead to stiffness and thickening of the condylar osteochondral interface. In recent years, such therapies as intraarticular platelet-rich plasma (PRP), hyaluronic acid (HA), and mesenchymal stem cell-based treatment (MSCs) have shown promising results with respect to the regeneration of joint structures or the protection against further damage in TMJ OA. Nevertheless, PRP and MSCs are more frequently associated with cartilage and/or bone repair than HA. According to recent findings, the latter could enhance the restorative potential of other therapies (PRP, MSCs) when used in combination, rather than repair TMJ structures by itself. TMJ OA is a complex disease in which degenerative changes in the cartilage and bone develop through intricate mechanisms. The regenerative potential of such therapies as PRP, MSCs, and HA regarding the cartilage and subchondral bone (alone or in various combinations) in TMJ OA remains a matter of further research, with studies sometimes obtaining discrepant results.

Prevalence of Developmental Dental Anomalies Using Digital Panoramic Radiographs in Libyan Dental Patients

Dental anomalies may occur due to the complex interactions among genetic, epigenetic, and environmental factors during dental development. The current study aimed to determine the prevalence and gender significance of developmental dental anomalies (DDA) in dental patients. This was a cross-sectional study of 260 subjects (123 males and 137 females) with an age range of 6–35 years old. Clinical and radiographic examinations were performed to determine the prevalence of anomalies in tooth number, shape, size, position, and structure. Descriptive statistics was performed, the chi-square test was used for analysis and p-value was set at 0.05. The findings showed that 203 subjects (78.1%) had DDA, which included 86 males (33.1%) and 117 females (45%). A significant gender difference was found regarding the prevalence of two anomalies (p &lt; 0.05). The most prevalent anomaly was displacement 51.2%, followed by dilaceration 24.2%. A significant gender difference (p &lt; 0.05) was found regarding hypodontia 16.5% and impaction 14.6%, with more predominant in females. Some anomalies were not observed such as microdontia, dentin dysplasia, ectopic eruption, gemination, and taurodontism. The study concluded that displacement and dilacerations were the common abnormalities. These findings may lead to various dental complications. Therefore, early diagnosis and follow-up observation are required to reduce the potential dental problems. In addition, it is helpful to increase the knowledge of practitioners with regards to DDA and its occurrence. Furthermore, it is good to highlight the importance of early diagnosis of DDA, especially in the mixed dentition, which can lead to reducing the complication of an orthodontic treatment plan.