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ABSTRACT: Congenital segmental absence of bowel muscle layer which is also known as Segmental absence of intestinal musculature (SAIM) is rare cause of obstruction in neonates and exceedingly rare in adults. We present 35 years old male with right iliac fossa (RIF) pain since 7 daysandnot passing stool since 3 days, was operated with suspicion of intestinal tuberculosis (TB). Our case shows two rare anomalies, SAIM and duplication in single patient which makes itunique. Histopathologically it was diagnosed as Congenital segmental absence of bowel muscle layer with duplication of bowel wall. [ABSTRACT FROM AUTHOR]

Objective: To identify whether conventional methods of estimating fetal growth (Hadlock's formula), which relies heavily on abdominal circumference measurements, are accurate in fetuses with gastroschisis. Methods: A retrospective cohort study was performed between the period January 1, 2011 and December 31, 2021 in a tertiary referral maternity hospital identifying all pregnancies with a diagnosis of gastroschisis. Projected fetal weight was obtained using the formula (EFW [Hadlock's formula] + 185 g × [X/7]) where X was the number of days to delivery. Results: During the study period 41 cases were identified. The median maternal age was 25. The median BMI was 25 and 63% were primiparous women (n = 26). Median gestation at diagnosis was 21 weeks. Median gestation at delivery was 36 weeks. A total of 4.8% of mothers had a history of drug use (n = 2). The rate of maternal tobacco use was 21.9% (n = 9). A total of 4.8% of fetuses had additional congenital anomalies including amniotic band syndrome and myelomeningocele (n = 2). Estimated fetal weight (EFW) and birth weight data were available for 34 cases. A Wilcoxon signed‐rank test showed projected EFW using Hadlock's formula did not result in a statistically significant different birth weight (Z = −1.3, P = 0.169). Median projected weight and actual birth weight were 2241.35 and 2415 g respectively. Median difference was 0.64 g (95% CI: −148 to −28.5). Conclusion: Our data showed accuracy using standard formulae for EFW in fetuses with gastroschisis. Synopsis: Our study shows accuracy using standard formulae such as Hadlock's formula for estimating fetal weight in fetuses with abdominal wall defects such as gastroschisis. [ABSTRACT FROM AUTHOR]

Background: Congenital lumbar facet joint defect is a rare congenital developmental disorder with only a few reported cases in the literature, primarily affecting the L5‐S1 segments. This study reports the first case of a defect in the left L3 inferior articular process; and presents a review of the existing literature on the subject, proposes a classification system, and validates the inter‐observer and intra‐observer reliability of this classification system. Case Presentation: A 14‐year‐old boy presented to our orthopedic clinic with persistent lower back pain for 1 month. Imaging analysis, including CT scans, 3D reconstruction, and MRI, revealed a congenital lumbar facet joint defect at the L3 level, which has not been reported. Conservative treatment resulted in a significant improvement in his symptoms, and he is currently under follow‐up care. Conclusion: Congenital defect of the lumbar facet joint is a rare spinal condition. This article reports the first patient with a defect in the left L3 inferior articular process and conducts a comprehensive literature review, proposing a classification of articular process defects into five types. The two most common types are Types B and C. We have demonstrated that this system is reliable and reproducible and have described the treatment of each type. [ABSTRACT FROM AUTHOR]

Simple Summary: This report characterized complete thoracic ectopia cordis (EC) affecting two newborn lambs from different locations in Brazil, contributing to the knowledge about this rare condition in sheep. Two male newborn lambs presented exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Clinical findings in the lambs, aside from the EC, were unremarkable. EC is an extremely rare congenital malformation in sheep, with limited cases documented globally. The pathogenesis and etiology remain uncertain, involving potential genetic and environmental factors. Cardiac congenital defects related to inheritance and teratogenesis have been reported in veterinary species and humans worldwide. Among these, ectopia cordis (EC), characterized by an externalized heart through a cleft, is extremely rare in sheep. This report presents the diagnostic features of two cases of complete thoracic EC in newborn lambs. Clinical findings in the lambs, aside from the EC, were unremarkable. Both animals exhibited exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Histologically, the epicardium was thickened by fibrous tissue in both lambs, with one animal also showing marked edema, hemorrhage, and neutrophilic inflammatory infiltration. The prognosis of EC in the lambs of this study was poor, with fatal outcomes despite attempts at surgical correction. [ABSTRACT FROM AUTHOR]

Congenital pericardial absence is an uncommon heart condition that is usually undiagnosed due to a lack of symptoms and awareness. In this case study, we present a 72-year-old patient who initially presented for medical evaluation due to unexplained weight loss, a displaced cardiac apex, and poor echocardiographic windows. An extracardiac tumor was suspected at first, but it was later determined that the patient had a congenital complete absence of the left pericardium. This case illustrates the possibility for benign pathology to present abnormally and details the clinical features, imaging findings, and management of congenital absence of the pericardium. [ABSTRACT FROM AUTHOR]

Introduction: Neural Tube Defects (NTDs) are one of the common congenital anomalies leading to miscarriages and serious disabilities in newborns. NTDs are the second most common type of birth defects. Even though the aetiology of NTDs is multifactorial, Folic Acid (FA) deficiency is the most common cause. There are limited Indian studies on awareness of FA usage in the general public. Aim: To assess the awareness and usage of FA to prevent NTDs in young ladies of Mangaluru, Dakshina Kannada (DK) district, Karnataka, India. Materials and Methods: It was a community-based crosssectional study conducted at Father Muller Medical College in Dakshina Kannada district, Mangaluru, Dakshina Kannada (DK) district, Karnataka, India from August 2023 to October 2023. A total of 300 young Indian females aged 18-35 years, residing in the study district, were randomly chosen as participants. Data were collected by an interviewer using a semistructured questionnaire with two components. Part 1 focused on sociodemographic details, while Part 2 gathered information on the awareness of FA supplements, dietary sources of FA, the best time, and dosage of FA supplements to prevent NTDs. Descriptive analysis of the data was done. Results: The study included 90 married and 210 unmarried females. The average age of the participants was 23.7±5.7 years. The study results observed that only 103 (34%) of the participants had heard about FA supplements. A total of 240 (80%) of them said they were not aware of the preferred time for FA. Only 9 (3%) females could mention the correct dose of FA. Conclusion: The study results indicate a gross lack of awareness about FA supplements to prevent NTDs in the general population of the region. [ABSTRACT FROM AUTHOR]

Diprosopia, a congenital defect process also known as craniofacial duplication, is well-recognized in humans and has also been reported in numerous animal species. Here we describe a case of diprosopia in a live mixed-breed beef calf. We used computed tomography imaging to characterize internal and external abnormalities which, to our knowledge, have not been reported in any diprosopic veterinary species. Additional diagnostic tools included postmortem examination and histopathology. This case highlights distinct anatomic features associated with diprosopia and underscores the unique challenges associated with classifying and managing fetal malformations. [ABSTRACT FROM AUTHOR]

Copyright of Veterinaria is the property of University of Sarajevo, Veterinary Faculty and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Intestinal atresia is an under‐diagnosed congenital defect in cattle. It results in complete occlusion of the intestinal lumen and, unless surgically corrected, results in death or euthanasia of the affected calf. There is limited information on the incidence of this condition or on risk factors, including predisposing alleles, associated with the defect. In this study, active surveillance of 39 dairy farms over 8 years identified 197 cases of intestinal atresia among 56 454 calves born, an incidence of 0.35%. The majority of cases (83%) had occlusion of the jejunum, although cases with blockage of the colon (14%) or anus (4%) were also identified. The defect was twice as common in male as in female calves (p < 0.0001), and was more common in progeny of older cows than in progeny of first or second lactation cows (p < 0.001). Year and farm of birth were also significantly associated with incidence (p < 0.05). The incidence of intestinal atresia was highest among the progeny of three related Jersey sires, suggesting that a gene for intestinal atresia was segregating within this family. Linkage analysis utilising 28 affected progeny of two half‐sib putative carrier sires identified two putative quantitative trait loci associated with the defect, on chromosomes 14 and 26, although no clear candidate genes were identified. There was no evidence of a sire‐effect among the progeny of Holstein‐Friesian sires. However, a case–control genome‐wide association study involving 91 cases and 375 healthy controls, identified 31 SNP in 18 loci as associated with the defect in this breed. These data suggest that intestinal atresia in dairy calves is not a simple Mendelian trait as previously reported but a complex multigenic disorder. [ABSTRACT FROM AUTHOR]

Background: Polymelia is an occasional and congenital malformation in bovine calves, characterized by the presence of single or multiple accessory limb(s) at various body regions, which are often called the supernumerary limb(s). One of these defects is known as pygomelia, where the additional limb is attached to the pelvis within the perineal region. This study describes such a case along with surgical management. Case presentation: A 2-day-old indigenous bovine female calf of 22.7 kg BW was presented with an additional and non-functional fifth limb at the perineal region. The ectopic fifth limb was smaller in size than the other four normal limbs and was in a flexible hanging position. Other than this, the animal was apparently normal with a short and contracted tail. Clinical examinations involving the extension and flexion of the abnormal limb revealed no deep bony attachment/articulation with the pelvic girdle or the caudal spine. The curled tail having an S-shaped base indicated the skeletal defects in the caudal spine. Electrosurgery was performed under deep sedation with regional as well as local anesthesia, which exposed that the limb was internally seated into deep gluteal muscle layers with the attachments of fibrous connective tissues and cartilage to its proximal bony head and located partially to the left lateroventral extremity of the perineum without any direct involvement in the bony pelvis. Surgical excision was done to remove the supernumerary limb, and the wound was closed routinely. Postoperatively, the animal was provided with supportive medications for early healing and recovery. After 2 weeks of surgery, the calf completely recovered without any complications. The contracted tail and spine were left unaffected as no initial surgical maneuver was done due to the early age of the calf and would be considered for further long-term treatment options upon the growth and development with age. Conclusions: Pygomelia of bovine calves is one of the rare congenital defects that can be found along with other developmental anomalies. However, this defect can be successfully corrected by surgical approaches following intensive postoperative care and management. [ABSTRACT FROM AUTHOR]

Tricuspid valve atresia is a congenital heart defect and if left untreated, the lesion has a high mortality rate. This study aimed to report a case of tricuspid valve atresia in a low-birth-weight three-day-old infant, who was treated by intra-ductal stenting and established pulmonary blood flow instead of routine shunting. The patient was a three-day-old male infant, weighing 2800 grams with a gestational age of 38 weeks. He was admitted with symptoms of tachypnea, cyanosis, 45% saturation, and severe metabolic and respiratory acidosis. On echocardiography, tricuspid valve atresia was observed. The infant was treated with prostaglandin E1 immediately after admission to the NICU and necessary interventions were taken to keep the patent ductus arteriosus (PDA) open. Angiography was performed through the aortic artery. First, a balloon was inserted, and then a stent was successfully placed inside the PDA. Preoperative saturation increased from 45% to 93% after stenting, and the infant was extubated after 48 hours in a good general condition. As the results of the current case report showed, stent placement can effectively keep the PDA open and establish pulmonary blood flow in high-risk infants. It is suggested that ductal stenting should be considered as the first treatment selection in newborns with tricuspid valve atresia or as a good alternative method for Blalock-Taussig shunt. [ABSTRACT FROM AUTHOR]

Introduction: The development reached by teratology as science and the clinical observations made by the scientists, allowed to establish their principles, represented by a series of factors that determine the capacity of an agent to cause congenital dysfunctions, which are at the moment of great utility and importance in the training of health professional and rebound in the Infantile Maternal Care Program. Objective: To describe the teratogen agents associated with the appearance of congenital defects. Methods: A literatura review was carried out about the teratogen agents and their possible teratogenic effects in the LILACS, SciELO, Clinicalkey databases and Academic Google, as well as in the platform Virtual Library in Health. Results: The consequences of the exhibition to the teratogen depend, among other things, of the moment in which is the gestation process. There are multiple teratogen agents and some risk factors that frequently concomitan with them, for what should be considered in the primary prevention to diminish alterations and congenital defects for these environmental noxas. Final considerations: The knowledge of the effects of the agents teratogen allows to value the possible damage to the fetus. [ABSTRACT FROM AUTHOR]

Despite the developmental toxicity reported in animals, few epidemiologic studies have investigated the potential effects of prenatal exposure to pyrethroid pesticides (PYRs) on fetal growth. A birth cohort study was conducted to examine the association between prenatal exposure to PYRs and birth outcomes, and a nested case-control study was conducted in this cohort to evaluate the effects of PYR on congenital defects. The assessment of PYR exposure was based on self-reported household pesticide use and urinary PYR metabolite levels. We found that pregnant women in this region were ubiquitously exposed to low-level PYRs, although few reported household pesticide use. Women who often ate bananas or cantaloupes had a higher level of urinary 3-(2,2-dibromovinyl)-2,2-dimethylcyclopropane-1-carboxylic acid (DBCA), and the number of fruit types consumed by pregnant women was positively related to the concentrations of 3-phenoxybenzoic acid (3PBA) and total PYR metabolites (P < 0.05). Increased urinary 4-fluoro-3-phenoxybenzoic acid (4F3PBA), DBCA, and total PYR metabolites were associated with increased birth weight, length, and gestational age, and with decreased risk of small for gestational age (SGA) and/or premature birth. However, maternal household pesticides use was related to congenital anomalies. Thus, although prenatal exposure to low-dose PYRs promoted the fetal growth, the beneficial effects of fruit intake may outweigh the adverse effects of pesticide exposure. This study provided us an insight into the biological mechanisms for the effect of prenatal PYR exposure on fetal development, and suggested that further investigations in a larger study population with low-dose PYR exposure is needed. [ABSTRACT FROM AUTHOR]

VACTERL/VATER association is a condition defined by the presence of at least three of the following congenital malformations: vertebral defects (V), anal atresia (A), cardiac defects (C), tracheo-oesophageal fistula (TE), renal anomalies (R) and limb abnormalities (L). We describe a stillborn female piglet with cardiac anomalies, renal defects, vertebral anomalies, anal atresia and a single umbilical artery (SUA), which are the main features of VACTERL association. In addition, the piglet had a unilateral abdominal wall defect. This was the only affected animal in a litter of 16 piglets. The molecular inductive mechanisms of this disorder are discussed, as well as the comparative and embryological implications. [ABSTRACT FROM AUTHOR]

Two Punganur heifer calves were presented with non-weight bearing, lameness and knuckling of both forelimbs. There was difficulty in extension of fetlock joints of forelimbs in both calves. The condition was diagnosed as contracted tendons and surgical correction was attempted. Tenotomy was undertaken under local analgesia. Post-operatively, limbs were immobilized with reinforced MRJ using bamboo splints and the same was repeated with routine antiseptic dressing. Both calves recovered normally with complete weight bearing. [ABSTRACT FROM AUTHOR]

Abstract: Cranial dysraphism, a pathological condition resulting from a neural tube defect, is a rarely reported condition in archaeological and clinical literature. A defect at bregma was identified on human remains recovered from New Orleans, Louisiana, when exhumation of several commingled bodies occurred in a paupers' cemetery in 2015. Initial speculation regarding the cause of the condition consisted of trauma, pathological condition, a natural variant, or the result of a congenital defect. A differential diagnosis was utilised to approach the breadth of potential causative factors, incorporating clinical information on the bony response of soft tissue defects common in modern reports. However, during a review of the bioarchaeological literature, an alternative explanation for the feature, one that did not result from typically reported causes, revealed that this observed defect was likely an example of the rarely reported condition known as cranial dysraphism. Through review of both clinical and bioarchaeological data, the resulting diagnosis observed here is supported through the unique characteristics that several other authors have identified as associated with cranial dysraphism. Unique features of this bony defect include the smooth walls of the depression, a saucer‐like shape with an anterior rim built up of cortical bone, lack of diploë exposure, a perforation at the base of the saucer, and the retention of cranial sutures. Although the defect also closely resembles the bony response to a cyst, the perforation and anterior rim are supportive of its diagnosis as a cranial dysraphism. This case study of a single occurrence of cranial dysraphism is reported to assist practitioners in differentiating between this condition and other potential causes of anomalies of similar appearance. [ABSTRACT FROM AUTHOR]

This article reports a case of a congenital unilateral forelimb defect in a two-month-old male puppy with clinical and radiographic findings. Congenital deformities are structural or functional congenital defects arising from errors during development, and they can affect an isolated portion of the body, the complete body or parts of several systems of the body. The congenital absence of a portion of the proximal epiphysis of the radius is an extremely rare condition in human and animal species. Although similar congenital limb deformities have been infrequently reported in dogs, the present case is, to the best of the authors' knowledge, the first report of this type of partial forelimb paraxial radial hemimelia in a puppy, and it represents an addition to the scant literature on this topic. [ABSTRACT FROM AUTHOR]

Much of the fused pelvic kidney (pancake kidney) described in the literature are complicated by coexisting anomalies of other organ system and vasculature. During a routine anatomical dissection of a 69 year-old male we found a fused pelvic kidney without vascular or other organ system defects. A detailed dissection of the entire body showed normal anatomical features except pancreatic cancer and related lymph nodes. Further dissection of the pelvic kidney showed presence of right and left accessory renal arteries; however the remaining vasculature was normal. Possible embryological causes of pelvic kidney and clinical consequences of this anomaly are discussed. [ABSTRACT FROM AUTHOR]

Objective: We sought to examine anatomic variations of the atlas and the clinical significance of these variations. Methods: We retrospectively reviewed 1029 cervical 3-dimensional (3D) CT images. Cervical 3D CT was performed between November 2011 and August 2014. Arcuate foramina were classified as partial or complete and left and/or right. Occipitalization of the atlas was classified in accordance with criteria specified by Mudaliar et al. Posterior arch defects of the atlas were classified in accordance with criteria specified by Currarino et al. Results: One hundred and eight vertebrae (108/1029, 10.5%) showed an arcuate foramen. Bilateral arcuate foramina were present in 41 of these vertebrae and the remaining 67 arcuate foramina were unilateral (right 31, left 36). Right-side arcuate foramina were partial on 18 sides and complete on 54 sides. Left-side arcuate foramina were partial on 24 sides and complete on 53 sides. One case of atlas assimilation was found. Twelve patients (12/1029, 1.17%) had a defect of the atlantal posterior arch. Nine of these patients (9/1029, 0.87%) had a type A posterior arch defect. We also identified one type B, one type D, and one type E defect. Conclusion: Preoperative diagnosis of occipitalization of the atlas and arcuate foramina using 3D CT is of paramount importance in avoiding neurovascular injury during surgery. It is important to be aware of posterior arch defects of the atlas because they may be misdiagnosed as a fracture. [ABSTRACT FROM AUTHOR]

To increase public understanding on cloned cattle derived from somatic cell nuclear transfer ( SCNT), the present review describes the effect of calf death loss on an SCNT cattle herd. The incidence of death loss in SCNT cattle surviving more than 200 days reached the same level as that in conventionally bred cattle. This process could be considered as removal of SCNT cattle with congenital defects caused by calf death loss. As a result of comparative studies of SCNT cattle and conventionally bred cattle, the substantial equivalences in animal health status, milk and meat productive performance have been confirmed. Both sexes of SCNT cattle surviving to adulthood were fertile and their reproductive performance, including efficiency of progeny production, was the same as that in conventionally bred cattle. The presence of substantial equivalence between their progeny and conventionally bred cattle also existed. Despite these scientific findings, the commercial use of food products derived from SCNT cattle and their progeny has not been allowed by governments for reasons including the lack of public acceptance of these products and the low efficiency of animal SCNT. To overcome this situation, communication of the low risk of SCNT technology and research to improve SCNT efficiency are required. [ABSTRACT FROM AUTHOR]

Gastroschisis is a rare congenital defect of the ventral abdominal wall through which abdominal contents herniate outside of the body without a peritoneal sac. The most common location of the defect is to the right of the umbilicus, however, there have been case reports of defects in alternate locations along the abdominal wall, particularly on the left side. Here we describe a case of a baby born with a gastroschisis-like defect in the midline supraumbilical abdominal wall, the only such case described in the literature, to our knowledge. The defect was small with herniated bowel and loss of domain in the abdomen requiring delayed closure with a silo. Cases of gastroschisis in unusual locations bring into question the pathogenesis of such defects, a topic which remains controversial. [ABSTRACT FROM AUTHOR]

The article presents a study which aims to know if women who are occupationally exposed to nickel in early pregnancy are at elevated risk of delivering a newborn with a malformation or deformation of the musculoskeletal system. Researchers used data from the Kola Birth Register (KBR), including those that concern the newborns, maternal occupation and workplace. They found that three hundred and four infants were diagnosed with isolated musculoskeletal defects at birth. They discovered high incidence of defects in the musculoskeletal system at birth. However, they found no effect of maternal exposure to water-soluble nickel on the risk of delivering a newborn with a defect.

Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The aim of the present study is to make a comparative study in human fetuses and in patients with cryptorchidism, analyzing the incidence of a number anomalies of the testes for both populations.We studied 326 testes from 163 human fetuses ranging in age from 10 to 35 weeks postconception (WPC) and 133 testes from 101 cryptorchid patients aged from 1 to 15 years old (mean, 6.4 years). The Fisher's exact test was used for comparison.Among 326 fetal testes, 224 (68.7%) were abdominal, 45 (13.8%) were inguinal and 55 (16.8%) were scrotal. In one fetus at 23 WPC, both testes (0.6%) were absent. Of the 133 cryptorchid testes, 17 (12.78%) were abdominal, 92 (69.1%) were inguinal and 24 (18%) were high scrotal. Of the 17 abdominal testes, three (17.6%) were atrophic and two were vanished (11.7%). Of the 92 inguinal testes, one (1.08%) was vanished. Twenty-eight (21%) of the cryptorchid testes were impalpable and among these, 17 were located in the abdomen (60.7%) and 11 (38.2%) in the inguinal region (internal ring).Testicular agenesis is a very rare anomaly, both in fetuses and patients with cryptorchidism. [ABSTRACT FROM AUTHOR]

Atresia ani, a common genetic defect in animals, is often accompanied by urogenital defects in calves. This paper reports a case of atresia ani with diphallus and separate scrota in a calf. The calf was born with atresia ani; surgery (to open the anus) was performed 3 days after birth. No urogenital abnormalities were noticed until 4 months after birth. At that time, two separate scrota (each containing a testis) and a sac-like structure in the middle of two scrota, were visible. The gait was abnormal, with abduction of the hind limbs while walking. Additionally, the hind legs appeared wider than usual at the hip joints. Two weeks later, two peni (diphallia) was observed, each in a separate preputial sheath. The calf had a normal karyotype on cytogenetic examination. Plasma concentrations of testosterone at 5.5, 6, and 7 months of age were 3.5, 1.9, and 1.7 ng/ml, respectively. At necropsy (7 months of age), the prepuce was thick and the glans of the right penis was adhered to the prepuce. The left penis did not have a urethra or retractor penis muscles. The sac-like structure in the middle of the two scrota contained the urinary bladder and a loop of small intestine. The pubic bone had failed to fuse at the pelvic symphysis. In conclusion, this is the first reported case of atresia ani with diphallus, separate scrota, and pubic bone separation in a calf. [Copyright &y& Elsevier]

Segmental absence of intestinal musculature (SAIM) is a rare cause of intestinal obstruction and/or perforation seen in neonates, and rarely in adults. We present a case of SAIM in a 48-year-old male, who presented with acute abdominal symptoms and was repeatedly explored because of recurrence of abdominal symptoms. [ABSTRACT FROM AUTHOR]

Arachnoid cysts are a congenital disorder, and most cases begin during infancy; however, onset may be delayed until adolescence. Here wg present an unusual case of atypical Paraplegia with Lymphoedema, with onset during adolescence and rapid progression in a young female patient who showed the characteristic appearance of cyst on magnetic resonance imaging (MRI) of spinal cord. This report intends to highlight paraplegia with lymphoedema, as a rare cause of spinal cord compression in pediatric population along with congenital defect manifestations and an interesting radiology finding of the disease. [ABSTRACT FROM AUTHOR]

Sacrococcygeal teratoma (SCT) is the most common fetal and neonatal tumor. While SCT is often associated with urological problems, the association between SCT and a urogenital sinus (UGS) anomaly is rare. A concurrent UGS anomaly may be an acquired condition due to resection of SCT because it is rarely found at birth. In our case in whom fetal imaging study showed an abdominal cystic lesion, SCT with a UGS anomaly was suspected at birth and confirmed by endoscopy before resection of SCT during the neonatal period. These findings revealed that UGS anomaly may develop congenitally. [ABSTRACT FROM AUTHOR]

Background: The case report describes a rare congenital anomaly, crossed fused renal ectopia (CFRE), with coexistence of two other abnormalities – atypical portal vein and coccygeal vertebrae malformation in a domestic cat. The concomitance of those 3 congenital defects has not been described previously. Case presentation: An 8-month-old female, domestic cat suffering from chronic diarrhea was referred to the diagnostic imaging unit. The patient showed no other clinical symptoms. An abdominal ultrasonographic examination was performed in order to evaluate the condition of abdominal organs, particularly the gastrointestinal tract. The ultrasound examination showed an ectopic duplex kidney at instead of kidneys in their typical location. Computed tomography (CT) with angiographic phase and excretory urography was requested to evaluate the condition of the kidneys and ureters. The final diagnosis was CFRE, atypical portal vein and coccygeal deformation in an asymptomatic cat with no changes in renal function and normal blood parameters. Conclusions: Crossed fused renal ectopia is a rare congenital anomaly and is easily detectable by an abdominal ultrasonographic examination and CT, which allows more complete assessment of both anatomical relations and secretory function of the kidney. The occurrence of CFRE, abnormal portal vein and spinal malformation in a clinically healthy patient is the evidence that congenital malformations may simultaneously involve various, not directly related structures and systems, without significant influence on blood and urine parameters. Thus the most useful tool in the evaluation of the morphological and functional changes is the diagnostic imaging, especially contrast enhanced CT. Our results show that renal fusions should be considered in the differential diagnosis of caudal abdominal masses. [ABSTRACT FROM AUTHOR]