Bilateral Agenesis Research Articles

Evaluation of the skeletal and dental effects in orthodontic patients with maxillary lateral incisor agenesis.

The purpose of this study was to evaluate the transverse dimension of the dentoalveolar and skeletal widths in both unilateral (UMLIA) and bilateral (BMLIA) maxillary lateral incisor agenesis groups. The study sample consisted of 59 patients (34 females and 25 males) divided into three groups as UMLIA group (16 patients; 14.94 ± 1.37 years), BMLIA group (21 patients; 14.46 ± 1.53 years) and control group (22 patients; 15.28 ± 1.70 years) without tooth agenesis. Transversal measurements (maxillary and mandibular intercanine, interpremolar, intermolar, intercanine alveolar, interpremolar alveolar, intermolar alveolar widths) were done on dental casts. Craniofacial skeletal measurements were done with posteroanterior cephalometric radiographs. Statistical testing was performed with the one-way variance analysis, Kruskal-Wallis and post hoc tests. UMLIA and BMLIA groups had statistically significantly narrower skeletal apical base of the maxilla, maxillary intercanine and intercanine alveolar widths compared with the control group (P < .05). Moreover, UMLIA and BMLIA groups had statistically significantly similar dental, alveolar and skeletal features (P > .05). The UMLIA and BMLIA groups showed statistically significantly smaller values for maxillary intercanine, maxillary intercanine alveolar and skeletal maxillary widths compared with the control group. This study provides information the transverse dimension of the dental, alveolar and skeletal widths with maxillary lateral incisor agenesis patients. Knowledge of transverse dimension of the dental, alveolar and skeletal widths with maxillary lateral incisor agenesis patients is important for diagnosis and treatment planning.

Bilateral Agenesis of Internal carotid artery: A case report with emphasis on neuroimaging features

Congenital absence of the internal carotid artery is a rare anomaly, occurring in less than 0.01% of the population [1, 3]. It includes agenesis, aplasia, and hypoplasia of the internal carotid artery [2, 5]. Recognition of these anomalies has important implications during planned surgery, in thromboembolic disease and in the surveillance and detection of associated cerebral aneurysms [2, 3]. It is usually an incidental finding on color Doppler carotid ultra sonography, angiography, computed tomography or magnetic resonance imaging of the head and neck taken for some other indication [2, 6]. Most of the patients are asymptomatic due to the presence of sufficient cerebral circulation supplied by the communicating arteries of the circle of Willis, inter cavernous anastomosis, external carotid artery and by persistent embryologic arteries to the carotid artery territory. Nevertheless, in some cases this anatomic variation may eventually lead to some clinical signs and symptoms [2, 4, 6]. We present a rare case of congenital absence of both internal carotid arteries and its possible implications.

Isolated bilateral congenital lacrimal gland agenesis – Report of two cases

Congenital lacrimal gland agenesis, also called congenital alacrima, is a rare cause of dry eye and is characterized by aplasia or hypoplasia of lacrimal glands. We present two 5-year old children with congenital lacrimal gland agenesis. The two cases had the final diagnosis of isolated bilateral congenital lacrimal gland agenesis and we document the clinical aspects, treatment and present a literature review related to this rare condition.

Revisiting the human seminiferous epithelium cycle

Can all types of testicular germ cells be accurately identified by microscopy techniques and unambiguously distributed in stages of the human seminiferous epithelium cycle (SEC)? By using a high-resolution light microscopy (HRLM) method, which enables an improved visualization of germ cell morphological features, we identified all testicular germ cells in the seminiferous epithelium and precisely grouped them in six well-delimitated SEC stages, thus providing a reliable reference source for staging in man. Morphological characterization of germ cells in human has been done decades ago with the use of conventional histological methods (formaldehyde-based fixative -Zenker-formal- and paraffin embedding). These early studies proposed a classification of the SEC in six stages. However, the use of stages as baseline for morphofunctional evaluations of testicular parenchyma has been difficult because of incomplete morphological identification of germ cells and their random distribution in the human SEC. Testicular tissue from adult and elderly donors with normal spermatogenesis according to Levin's, Johnsen's and Bergmann's scores were used to evaluate germ cell morphology and validate their distribution and frequency in stages throughout human spermatogenesis. Testicular tissue from patients diagnosed with congenital bilateral agenesis of vas deferens (n = 3 adults) or prostate cancer (n = 3 elderly) were fixed in glutaraldehyde and embedded in araldite epoxy resin. Morphological analyses were performed by both light and transmission electron microscopy. HRLM method enabled a reliable morphological identification of all germ cells (spermatogonia, spermatocytes and spermatids) based on high-resolution aspects of euchromatin, heterochromatin and nucleolus. Moreover, acrosomal development of spermatids was clearly revealed. Altogether, our data redefined the limits of each stage leading to a more reliable determination of the SEC in man. Occasionally, germ cells can be absent in some tubular sections. In this situation, it has to be taken into account the germ cell association proposed in the present study to classify the stages. Our findings bring a new focus on the morphology and development of germ cells during the SEC in human. Application of HRLM may be a valuable tool for research studies and clinical andrology helping to understand some testicular diseases and infertility conditions which remain unsolved. Experiments were partially supported by Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES), Fundação de Amparo à Pesquisa de Minas Gerais (FAPEMIG) and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). The authors declare that there are no conflicts of interest. Not applicable.

Bilateral cystic coloboma with microphtalmos and eyelid agenesis: US and MRI findings

Introduction The combination of bilateral microphthalmos, cystic coloboma and eyelid agenesis is rare. The definite diagnosis of this malformation is established by fundoscopic examination and confirmed by imaging modalities such as ultrasonography (US) and magnetic resonance imaging (MRI). This disorder may be associated with specific chromosomal abnormalities. Case report A 1-week-old male newborn was referred for bilateral eyelid agenesis. He was born at term by caesarean for foetal distress, after an uneventful gestation. The Apgar score was 8/9/9, birth weight 3420 grams and cranial perimeter 34 cm. Ultrasound (US) follow-up of the pregnancy was unremarkable. His parents were second degree consanguineous. At birth, physical examination of both eyes showed the absence of the palpebral fissure on both eyes with a continued skin covering the globes. There was no facial dysmorphism and no other abnormal finding on the physical examination. Results Right after birth, transfontanellar US showed a normal brain US of the orbits disclosed the abnormal ocular globes, appearing as bilobar cysts separated by a hyperechoic membrane, bilaterally. Posterior to the cysts, a hyperechoic structure was described as hypoplastic optic nerves. On the basis of US findings, the diagnosis of bilateral colobomateous cysts was suggested. Brain magnetic resonance imaging (MRI) confirmed the diagnosis, showing bilobar cystic deformation of the eyeballs. Bilateral microphtalmos was described, because of the shortening of the anteroposterior diameter on the axial plane (11 mm on the right and 13 mm on the left: the normal mean value being 21,00 mm). No brain abnormality was found. Genetic analyses disclosed abnormalities on chromosomes 9q31.2, 18p11.32 and 22q11.21. Conclusion This report has allowed us to review the diagnostic criteria of coloboma, the related imaging features and genetic findings, in a complex setting of associated microphtalmos and eyelids agenesis.

Dental age assessment in Caucasian subjects with third molar agenesis

Abstract Background Delayed dental development has been linked with tooth agenesis. Research aimed at dental age estimation in subjects with third molar agenesis has been minimal. Objectives To investigate the association between dental stage of development and third molar agenesis. Materials and methods A total of 700 orthopantomograms (OPTs) were obtained for this study. The age of the subjects ranged from 10 to 16 years (13.66 ± 1.50 years). The subjects were divided into two groups of which group 1 consisted of 350 patients (175 females and 175 males) with third molar agenesis and group 2 (control group) had all third molars present. The control group matched the study group for gender and chronological age (CA). Dental age (DA) was estimated from the OPTs using the Demirjian method for all included subjects. Results The mean CA and DA in the third molar agenesis group were 13.81 ± 1.60 years and 13.72 ± 1.65 years, respectively (p &gt; 0.05). The mean CA and DA in the control group were 13.51 ± 1.38 years and 14.50 ± 1.12 years, respectively (t = 18.25, p &gt; 0.000). CA-DA difference between the two groups was highly significant (t = 12.43, p &gt; 0.000). Gender differences were not detected. Furthermore, no differences were noted in dental age compared with chronological age in cases of unilateral versus bilateral third molar agenesis or in one jaw versus two jaws (p &gt; 0.05). Conclusions Dental development was delayed in subjects with third molar agenesis but the delay in dental age was not affected by the severity or site of agenesis.

Asymptomatic unilateral pulmonary hypoplasia/agenesis in adults: A report of six cases

Bilateral pulmonary agenesis is incompatible with extrauterine life. Unilateral pulmonary hypoplasia or agenesis is rare, the vast majority of cases presenting in the newborn, infancy, or early childhood, with respiratory symptoms. Pulmonary hypoplasia or agenesis presenting in adults is extremely rare, and the initial chest radiographs may present significant interpretation challenges. We report six patients encountered incidentally in a 10-year period, during which approximately 400,000 routine adult chest radiographs were reported. In all six cases, the chest X-ray films were equivocal, and multidetector computed tomography (CT) was required to settle the diagnosis. The cases are presented to draw the attention of radiologists and physicians to this rarity and to avert the kind of initial errors that we made in interpreting their chest radiographs. The invaluable role of multidetector CT in resolving this potential confusion is emphasized. A brief review of the relevant literature is undertaken.

Azoospermic patient's treatment: An experience of a PMA hospital unit and role of ultrasonography.

Azoospermia causes about 10% of male infertility and the best therapeutic option is the retrieval of sperm from testis or epididymis. From Juanary 2008 to June 2016, 92 men (median 36 years; range: 25-54 years) were submitted in 47 cases to TESE (testicular sperm extraction) and in 45 cases to PESA (percutaneous epididymal sperm aspiration) for secretory and obstructive azoospermia, respectively; moreover, all the patients previously underwent color Doppler ultrasound of the testis and transrectal ultrasound of the prostate. Serum FSH values were 9.4 ml/UI and 36.4 ml/UI (median 18.2 ml/UI) with an estimated volume of the testis equal to 5 ml; 40 men had the mutation for cystic fibrosis with bilateral agenesis of the deferentia vasa, 4 men had a cyst of the prostatic utricle, 1 man had retrograde ejaculation, 7 had an epididymis cyst and 2 had anejaculation secondary to traumatic neurologic spinal cord injury. The retrieval of sperm was performed in 39 (83%) and 36 (80%) of the patients submitted to TESE and PESA, respectively. The pregnancy rate was equal to 28% and 33% in men with secretory and obstructive azoospermia, respectively. Assisted reproduction technology with a multidisciplinary team is provided of a pregnancy rate equal about 30% in men with azoospermia; ultrasound allows to evaluate abnormalities of the testis and prostate improving the percentage of pregnancy.

Incidence of frontal sinus aplasia in Indian population

&lt;p class="abstract"&gt;&lt;strong&gt;Background:&lt;/strong&gt; Aplasia or agenesis of frontal sinuses is not uncommon in the literature. Previous studies have shown unilateral aplasia varying from 1-10% and bilateral agenesis of frontal sinus in 3-10% of patients. It is critical for the operating surgeon to be well aware of the normal anatomy and the variations while doing procedures like endoscopic sinus surgeries, cranialisation of frontal sinuses, frontal sinus trephination, and during anterior skull base procedures. The aim of this study is to demonstrate the incidence of anatomic variations of frontal sinus among Indian populations&lt;span lang="EN-IN"&gt;. &lt;/span&gt;&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Methods:&lt;/strong&gt; We did a cross sectional study on computed tomography (CT) scan of head, nose and paranasal sinuses in 730 patients above the age of 10 years. We excluded pregnant ladies, patients with prior sinus surgeries, sinonasal tumors, nasal polyposis, craniofacial trauma&lt;span lang="EN-IN"&gt;. &lt;/span&gt;&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Results:&lt;/strong&gt; &lt;span lang="EN-IN"&gt;We observed an incidence of 6.2% of unilateral aplasia of frontal sinus (2.2% in males and 4.0% in females, 3.7% right side and 2.5% left side) and 2.5% of bilateral frontal sinus aplasia (0.95% in males and 1.5% in females). &lt;/span&gt;&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Conclusions:&lt;/strong&gt; Frequent occurrence of frontal sinus aplasia highlights the need to gain a thorough knowledge of the normal anatomy and its variations in order to navigate safely through the nose during basic endoscopic sinus or anterior skull base surgeries to avoid complications&lt;span lang="EN-IN"&gt;.&lt;/span&gt;&lt;/p&gt;

Femoral hypoplasia- unusual facies syndrome: A case report and literature review

The femoral hypoplasia- unusual facies syndrome (FH/ UFS); also known as femoral facial syndrome (FFS), is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies.The two principal characteristics of this syndrome, micrognathia and shortened femur, can be demonstrated by sonographic (US) imaging in the early stages of pregnancy. This disorder was first discovered by Daentt et al in 1975 and is more common in females. The femoral hypoplasia- unusual facies syndrome is a rarely considered clinical entity that has a strong association with maternal diabetes.This report describes a case of FH/ UFSfollowed in our Physical and Rehabilitation Medicine (PRM) departmentfor proximal bilateral femoral agenesis.Hehad facial dysmorphia, bilateral testicular agenesis with a rare finding like bilateral second toe supraductus.

Permanent tooth agenesis in non-syndromic Robin sequence and cleft palate: prevalence and patterns

ObjectivesPartial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The study objective was to compare the prevalence and patterns of tooth agenesis in a group of patients with non-syndromic Robin sequence (ns-RS) and a group with non-syndromic cleft palate (ns-CP).Materials and methodsThe panoramic radiographs of 115 ns-RS and 191 ns-CP patients were assessed for agenesis of the permanent dentition (excluding third molars) and the patterns recorded using the Tooth Agenesis Code.ResultsPartial tooth agenesis was observed in 47.8% of ns-RS and 29.8% of ns-CP patients with a greater prevalence in the mandibula than in the maxilla, particularly in ns-RS. The teeth most frequently absent in both groups were the mandibular second premolars and maxillary lateral incisors. Tooth agenesis was bilateral in two-thirds of affected ns-RS patients and one-half of ns-CP patients. In ns-RS, bilateral agenesis of the mandibular second premolars was more frequently observed in female than that in male patients. Completely symmetrical patterns of hypodontia were found in around 45% of ns-RS patients with tooth agenesis compared to 35% in ns-CP. No association was found between the extent of the palatal cleft and the severity of hypodontia.ConclusionTooth agenesis is more prevalent in ns-RS than that in ns-CP, demonstrates a much greater predilection for the mandible in ns-RS, and bears no relation to the extent of the palatal cleft.Clinical relevanceWhen compared to ns-CP, additional developmental disturbances are likely involved in the etiology of tooth agenesis in ns-RS. Future research could help identify the underlying genetic traits and aid in classifying patients in those with and without expected tooth agenesis in order to facilitate orthodontic management strategies.

Metopic and Sagittal Suture Cranioschisis Mimicking Bilateral Parietal Bone Agenesis in a Hydrocephalic Newborn: A Case Report

Introduction: Absence of cranial bones is a rare condition that is incompatible with life. Parietal bone agenesis has rarely been reported in the literature. We performed a search for bilateral parietal bone agenesis associated with hydrocephalus and found that this was one of the few cases in the literature. Case Report: We presented a case with metopic and sagitta suture cranioschisis mimicking bilateral parietal bone agenesis (University of Izmir of Medicine, Turkey, 05.01.2016). There is a large defective area in our case similar to parietal bone agenesis, however, it has not anencephaly. Due to all of these aspects, our case is secondary cranioschisis. We have planned three stages of treatment for this case: 1) treatment of hydrocephalus, 2) tension bands to close the cranial bones and 3) cranioplasty. Conclusions: In the determination via 3D cranial tomography the presence of the parietal bones is important because, in case of agenesis the tension band does not benefit and on the contrary it creates extra stress on cerebral tissue.

Bilateral proximal femoral agenesis: Case report

The femur aplasia is a congenital developmental defect of the femur often associated with malformations of the pelvis and lower limb. There are all intermediaries between the short femur and vestigial femoral. The total femur absence (agenesis) is rare. We report a case of a child followed in our Physical Medicine Department for proximal bilateral femoral agenesis. This is M.S., a 5 years old child, addressed for a waddling gait and a deformation of the trunk. He is issued from a consanguineous marriage. His mother, 45 years old, diabetic under oral antidiabetic agents with notion of non-switch to insulin treatment at the start of pregnancy. The psychomotor development was normal except for a delay in walking (around the age of 2 years). Clinical examination found a small height (88 cm) and a weight of 23 kg. On spine examination, the occipital axis is diverted to the right with a left small dorsal gibbosity and lumbar lordosis. He also had an unequal length of lower limbs of 1 cm from the right side. Moreover, the child had bilateral testicular agenesis confirmed by ultrasound. The radiological assessment concluded to agenesis of the two femurs and absence of scoliosis. The patient benefited from functional rehabilitation sessions while the surgery was not indicated. Maternal diabetes is known to have teratogenic effects such as heart defects, kidney abnormalities but also femoral agenesis. There are few cases reported in the literature, where the originality of our case.

Osr1 Interacts Synergistically with Wt1 to Regulate Kidney Organogenesis.

Renal hypoplasia is a common cause of pediatric renal failure and several adult-onset diseases. Recent studies have associated a variant of the OSR1 gene with reduction of newborn kidney size and function in heterozygotes and neonatal lethality with kidney defects in homozygotes. How OSR1 regulates kidney development and nephron endowment is not well understood, however. In this study, by using the recently developed CRISPR genome editing technology, we genetically labeled the endogenous Osr1 protein and show that Osr1 interacts with Wt1 in the developing kidney. Whereas mice heterozygous for either an Osr1 or Wt1 null allele have normal kidneys at birth, most mice heterozygous for both Osr1 and Wt1 exhibit defects in metanephric kidney development, including unilateral or bilateral kidney agenesis or hypoplasia. The developmental defects in the Osr1+/-Wt1+/- mouse embryos were detected as early as E10.5, during specification of the metanephric mesenchyme, with the Osr1+/-Wt1+/- mouse embryos exhibiting significantly reduced Pax2-positive and Six2-positive nephron progenitor cells. Moreover, expression of Gdnf, the major nephrogenic signal for inducing ureteric bud outgrowth, was significantly reduced in the metanephric mesenchyme in Osr1+/-Wt1+/- embryos in comparison with the Osr1+/- or Wt1+/- littermates. By E11.5, as the ureteric buds invade the metanephric mesenchyme and initiate branching morphogenesis, kidney morphogenesis was significantly impaired in the Osr1+/-Wt1+/- embryos in comparison with the Osr1+/- or Wt1+/- embryos. These results indicate that Osr1 and Wt1 act synergistically to regulate nephron endowment by controlling metanephric mesenchyme specification during early nephrogenesis.

Bilateral absence of the internal carotid artery and basilar aneurysm

Bilateral agenesis or hypoplasia of the internal carotid artery (ICA) is a rare anomaly of embryogenesis and the simultaneous occurrence of aneurysms is higher than in the general population. We report a 74-year-old patient presenting a spontaneous subarachnoid haemorrhage whose CT-angiography showed a basilar aneurysm and bilateral absence of the internal carotid arteries. Also bilateral hypoplastic carotid canal in the skull base was identified. Digital subtraction angiography after surgical clipping of the aneurysm confirmed the absence of the internal carotid arteries; anterior circulation was totally supplied by enlarged posterior communicating arteries.

Prevalence of maxillary lateral incisor agenesis and associated skeletal characteristics in an orthodontic patient population

Objectives: This study was aimed to investigate the prevalence of maxillary lateral incisor agenesis and associated skeletal characteristics in an orthodontic patient population.Materials and methods: The records of the 1066 patients seeking orthodontic treatment were screened for maxillary lateral incisor agenesis (MLIA). The following data were recorded for each subject: age; gender; unilateral or bilateral agenesis of MLI and side. The lateral cephalogram of each subject with MLIA was digitally traced. The data were compared to age-matched control orthodontic patients with skeletal Class I.Results: The prevalence of maxillary lateral incisor agenesis was 4.9% (52 patients) in which 63.5% were females. There was a significant difference between MLIA patients and controls in sagittal relationships (ANB, Wits, AB plane, angle of convexity and Co-A/Co-Gn differential analyses) p < 0.05.Conclusions: Patients with maxillary lateral incisor agenesis showed a significant tendency for skeletal Class III compared with the Class I control. This could be attributed to maxillary hypoplasia/retrognathia.

Upper arch forms in cases with bilaterally missing upper lateral incisors after space closure

IntroductionPatients with missing upper lateral incisors are challenging to treat and an ideal result does not exist, although there is evidence that good results may be achieved with both canine mesialization and space opening. The aim of this retrospective study was to evaluate if the closure of the spaces in bilateral agenesis of the upper lateral incisors may affect the final upper arch form. MethodsThe initial and final dental casts of 26 adult patients (20 women and 6 men) with bilaterally missing lateral incisors treated with space closure (study group) were collected by the archives of four different orthodontists and were chosen based on the high-quality final results. Results were compared with those achieved by the same orthodontists on the initial and final casts of 26 adult patients with full dentition (20 men and 6 women) treated without extractions (control group). All upper dental casts were scanned to retrieve arch-forms, determine spatial coordinates, and perform quantitative measurements to interpolate the curves representing the form of the arches. ResultsClosure space treatment induces great changes in the arch length, no changes in intercanine width, and a little reduction of intermolar distance. When compared with those found in the control group, the final upper arches of the experimental group were flattened in the anterior zone and reduced in the anteroposterior dimension. This result was independent from the technique (type of brackets, prescriptions in the brackets, archwire sequence, archform) used by the four orthodontists who had treated the cases. ConclusionsWhen spaces were closed in cases with bilaterally missing lateral incisors, the anteroposterior dimension suffered the most important modifications.

Bilateral Pulmonary Agenesis: A Rare and Unexpected Finding in a Newborn

Background Bilateral pulmonary agenesis is a rare congenital anomaly incompatible with life that can be missed on routine prenatal screening. Prenatal ultrasound diagnosis of this fatal anomaly can aid in prenatal counseling and postdelivery care.Case Study We report the case of a newborn who was born prematurely at 29 weeks gestation and underwent several unsuccessful intubation attempts immediately after delivery.Conclusion Autopsy examination revealed bilateral pulmonary agenesis with a short, blindly ending trachea.

Eyelid agenesis and multiple ocular defects in a captive cheetah cub (Acinonyx jubatus)

This case report describes bilateral eyelid agenesis with multiple ocular defects in a captive bred, cheetah cub (Acinonyx jubatus). The ocular defects included a dermoid, bilateral, immature posterior cortical cataracts,...

THE PREVALENCE OF AGENESIS OF PALMARIS LONGUS MUSCLE IN STUDENTS OF NISHTAR MEDICAL UNIVERSITY, MULTAN

Background: Palmaris longus muscle belongs to the superficial group of muscles of forearm. This group normally have five muscles. It is the weak flexor of wrist joint and also anchor the skin and fascia of the hand. It is among the very useful muscles which are used for plastic and reconstructive surgery. The agenesis of Palmaris longus is variable in different population and countries. Objective: To determine the prevalence of agenesis of Palmaris longus muscle in students of Nishtar Medical University, Multan.&#x0D; Materials and Methods: The study was carried out on 567 randomly selected normal students of 1st year and 2nd year MBBS classes. There were 236 male students and 331 female students. The age was ranging from 17 years to 25 years. The anterior aspect of forearm and wrist was inspected and different tests were applied to find out the presence or absence of Palmaris longus muscle. Result: The bilateral agenesis of palmaris longus was 5.64%. The unilateral absence of palmaris longus was 7.23%. The right and left arm agenesis of palmaris longus was 4.05% and 3.17% respectively. The bilaterally agenesis in males and females is 6.35% and 5.13% respectively. Right arm and left arm agenesis in males is 4.66% on both sides while in females is 3.62% and 2.11% respectively.&#x0D; Conclusion: The prevalence of agenesis of palmaris longus in our study group was 12.87%. It is similar as mentioned in Standard Anatomy Text Books. There was no significant dominance in any arm side (P&gt;0.05%) but when compared in gender it was significantly higher in males (P&lt;0.05%).