Rare Congenital Anomaly Research Articles

Anomalous origin of the coronary artery: prevalence and coronary artery disease in adults undergoing coronary tomographic angiography

BackgroundAnomalous aortic origin of a coronary artery (AAOCA) is a rare congenital coronary anomaly with the potential to cause adverse cardiac events. However, there is limited data on the association between AAOCA and coronary artery disease (CAD). Therefore, the aim of this study is to determine the prevalence and symptoms of patients with AAOCA, as well as investigate the correlation between AAOCA and CAD in a population referred for coronary computed tomographic angiography (CTA).Methods and resultsAll consecutive patients who underwent CTA from 2010 to 2021 were included. Characteristics, symptoms, coronary related adverse events and CTA information were reviewed by medical records. Separate multivariable cumulative logistic regressions were performed, using the stenosis severity in each of the four coronaries as individual responses and as a combined patient clustered response. Finally, we identified 207 adult patients with AAOCA, the prevalence of AAOCA is 0.23% (207/90,501). Moreover, this study found no significant association between AAOCA and CAD. AAOCA did not contribute to higher rates of hospitalization or adverse cardiac events, including calcification.ConclusionAAOCA is a rare congenital disease that is not associated with increased presence of obstructive CAD in adults.

Proximal Femoral Focal Deficiency – An Uncommon Congenital Anomaly: Case Report and a Review of the Literature

Background: Proximal femoral focal deficiency (PFFD) is a rare congenital skeletal abnormality that may be associated with other bone defects. The incidence varies between 1 case per 50,000 people and 1 case per 200,000 people. PFFD is bilateral in 15% of cases [1]. In people with PFFD, the proximal femur is partially absent, but the distal femoral portion is always present, which serves to distinguish this phenomenon from the entire femoral deficiencies when the whole organs are usually shortened. Identifying these abnormalities on radiographs may aid in the management of these cases because early treatment may help ensure adequate femoral growth. This case report sheds light on this intriguing anomaly, offering an idea of the evaluation of Proximal Femoral Focal Deficiency.

Surgical Reconstruction of Type IV Hypoplasia of the Thumb (Floating Thumb) in Infants: A Retrospective Analysis of Functional Outcomes and Radiographic Alignment.

BACKGROUND Congenital hypoplasia of the thumb type IV, also known as floating thumb, is a condition in which 2 small phalanges are attached to the hand with a thin skin bridge. Surgical management options for this condition vary from amputation to flap reconstruction. MATERIAL AND METHODS This retrospective study analyzed 11 infants with congenital hypoplasia of the thumb type IV who underwent surgical reconstruction using a modified vascularized polydactylous hallux flap. The study included 6 male and 5 female infants, aged 6 to 24 months. Functional evaluations and radiographic studies were conducted postoperatively. RESULTS All 11 patients underwent the complete surgical protocol. Successful vascular and nerve anastomoses were performed during the initial procedure, ensuring sufficient blood supply and neural connectivity to the transferred toes. The second operation showed promising outcomes, including improvements in thumb opposition, grasp strength, and overall function. Postoperative assessments demonstrated satisfactory radiographic alignment and no major complications during the follow-up period. CONCLUSIONS The modified vascularized polydactylous hallux flap reconstruction is a viable surgical option for managing congenital hypoplasia of the thumb type IV in infants. This technique effectively restores thumb opposition, grasp strength, and overall hand function, with satisfactory radiographic alignment and minimal complications. The study findings support the efficacy and safety of this surgical approach in addressing this rare congenital anomaly.

Percutaneous Mitral Balloon Valvuloplasty in a Patient with Situs Inversus with Dextrocardia: A Case Report

Situs inversus with dextrocardia is a rare congenital disorder. There is a rare coincidence of rheumatic severe mitral stenosis in a patient with situs inversus and dextrocardia. Most of these patients undergo surgery due to technical difficulty, here we report a case of a 41-year-old male managed successfully with percutaneous intervention. Percutaneous mitral balloon valvuloplasty (PMBV) is feasible in these rare group patient with some additional modifications of the standard Accura balloon technique. Procedure should be carried out under Transthoracic echocardiography (TEE) guidance with surgical team standby in case emergency need of surgery. Despite all the precautions, careful watch on these patients has to be kept during immediate post procedure phase for at least 12 hours for any untoward complication.

Anterior Sagittal Epispadias Urethral Duplicity: A Case Report

Urethral duplication is a rare congenital urological anomaly that can be detected incidentally or due to urinary symptoms in young patients. Symptoms may include recurrent urinary tract infections, dysuria, bifurcated urinary stream, urinary incontinence, and purulent discharge from the accessory meatus. The pathophysiology remains poorly understood, with various embryological theories proposed. Treatment typically involves surgical excision of the accessory urethra, especially in symptomatic cases. Urethral duplication is often associated with other malformations, and Effman's classification system categorizes it into three types based on the location of the accessory urethra. We present the case of a 4 years old boy with anterior sagittal epispadias urethral duplicity.

Analysis of Prenatal Ultrasound Manifestations in 15 Cases of Cantrell Syndrome

Cantrell syndrome, a rare congenital disorder, is characterized by a unique collection of defects on the midline abdominal wall, the lower sternum, the anterior diaphragm, and the diaphragmatic pericardium in addition to some form of intracardiac defect. So far, most of the reports on fetuses with Cantrell syndrome worldwide are either case reports or literature reviews, and few comprehensive studies on fetuses with Cantrell syndrome have been reported, especially in domestic literature. This study aims to provide a detailed analysis of 15 cases of Cantrell syndrome fetuses, focusing on their prenatal ultrasound manifestations and postnatal examination outcomes. A retrospective analysis was conducted with 15 cases of fetuses diagnosed with Cantrell syndrome via prenatal ultrasound examinations between March 2018 and July 2023. Ultrasound examinations were performed in accordance with the Guidelines for Obstetric Ultrasound in China, including first-trimester fetal ultrasound scan and routine second-trimester fetal ultrasound scan. Gestational age was evaluated and nuchal translucency (NT) was measured during first-trimester fetal ultrasound scan at 11 to 13+6 weeks. The diagnostic criterion for NT thickening was NT≥3.0 mm and the screening of severe fetal structural malformations was performed, including the screening of the head, the neck, the thorax, the abdominal content, the abdominal wall, the limbs and other structures. During routine second-trimester fetal ultrasound scan, the fetal biometry was assessed and an anatomy survey was performed. Post-induction and postnatal outcomes of fetuses diagnosed with Cantrell syndrome by prenatal ultrasound were followed up by postnatal observation, inquiries with the electronic medical record system, or telephone follow-up. The prenatal ultrasound imaging manifestations and features of the fetuses with Cantrell syndrome, as well as their post-induction or postnatal examination results were comprehensively summarized and analyzed. The study involved pregnant women of the average age of 30.1±3.5 years, with ultrasound diagnoses made between 11 to 26 weeks of gestation (mean: 13.4±4.0 weeks). Among the 15 cases, there were 10 singleton pregnancies and 5 cases of one twin in a pair of twins. These twins comprised 3 monochorionic diamniotic twins and 2 dichorionic diamniotic twins, with Cantrell syndrome present in one of the twins in all 5 cases. Thirteen cases were diagnosed by fetal ultrasound scan conducted in the first trimester, with 10 being singleton pregnancies and 3 being twin pregnancies (1 monochorionic diamniotic twins and 2 dichorionic diamniotic twins). One case was missed in the first-trimester ultrasound scan, resulting in a missed diagnosis rate of 7.1%. Two cases were diagnosed in second-trimester fetal ultrasound scan, both involving monochorionic diamniotic twins. One case was a referral from another hospital at 19 weeks, while the other was initially not diagnosed for Cantrell syndrome and was diagnosed at 26 weeks. Prenatal ultrasound examinations revealed a consistent pattern of abnormalities across all 15 fetuses, including manifestations of ectopic cordis combined with abdominal protrusion mass. Specifically, 4 cases were diagnosed with omphalocele, 4 with gastroschisis, and the remaining 7 had uncertain coverage of the membrane on the surface of the abdominal protrusion mass. Six fetuses had complete ectopic cordis, while nine had partial ectopic cordis. Fetal echocardiography was performed in 5 cases, revealing intracardiac malformations in 4 cases (80%). Notably, 2 cases were diagnosed in the second trimester, including one with right ventricular hypoplasia accompanied by interventricular septal defect and another with double outlet right ventricle accompanied by interventricular septal defect. Additionally, 2 cases were diagnosed in the first trimester, one with single atrium and single ventricle, and the other with complete transposition of the great arteries. Of the 15 cases of fetuses with Cantrell syndrome, 13 (86.7%) exhibited concomitant malformations in other systems. These included 7 cases of spinal malformations, 4 limb abnormalities, 3 umbilical cord abnormalities, 2 central nervous system malformations, 1 facial malformation, and 2 fetal hydrops. Spinal malformations were the most prevalent concomitant malformation, accounting for 46.7% of all cases. Among the 14 fetuses undergoing NT examination, 7 (50%) had increased NT, and 5 of them had cystic hygroma. All 10 singleton pregnancies underwent induced abortion, and the appearance of the induced fetuses was consistent with the prenatal ultrasound manifestations. In the twin pregnancies, 2 cases experienced intrauterine fetal death, while 2 underwent selective reduction. Notably, 3 of these cases exhibited postnatal appearances consistent with prenatal ultrasound manifestation, while 1 case showed an indistinct appearance after selective reduction during delivery. One case was lost to follow-up. Genetic testing was conducted for 4 induced fetuses, none of which yielded any relevant pathogenic or potentially pathogenic variants. In conclusion, Cantrell syndrome manifests prenatally with ectopic cordis combined with abdominal protrusion mass, often accompanied by intracardiac malformations and other concomitant malformations. While most cases can be diagnosed in the first trimester, there remains the possibility of missed diagnoses, which underscores the importance of close follow-up in the second trimester.

The Connection Between Anatomical Substrate and Clinical Severity in Fetal Ebstein Anomaly.

Ebstein anomaly (EA) is a rare congenital heart defect characterized by abnormal development of the tricuspid valve (TV) and right ventricular myocardium. This study documents 2 dramatic cases of fetal EA characterized by hydrops and cardiomegaly, leading to intrauterine or early neonatal death. These clinical outcomes were associated with morphological abnormalities including severe tricuspid regurgitation, unguarded TV orifice, pulmonary atresia, and flattened right ventricular myocardium. This study highlights that these adverse anatomical features may result in unfavorable clinical outcomes in fetal EA. While timely identification of such features by prenatal ultrasound is crucial for providing accurate prognostic stratification and guiding treatment decisions, fetopsy may be necessary to discern EA among the spectrum of right-heart anomalies.

A case of Mayer-Rokitansky-Kuster- Hauser syndrome type I

Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder characterised by absence of uterus and vagina. Ovaries and fallopian tubes are normal and functional. Its incidence is 1 in 4500-5000 female. Patients present with primary amenorrhea with normal external genitalia and development of secondary sexual characteristics, and 46XX karyotype. It is usually diagnosed by MRI, CT or transabdominal USG, with MRI being the gold standard.

Quadricuspid Aortic Valve: Two Asymptomatic Cases of Rare Anomaly

Quadricuspid aortic valve (QAV) is a rare congenital anomaly with <200 cases reported to date. Most patients are asymptomatic. Symptoms depend on the functionality of the valve and associated heart defects, most often presenting as aortic regurgitation followed by aortic stenosis. Management guidelines are ill-defined. We present two cases of QAV with rare associations (ventricular septal defect) and variable clinical presentation.

Giant Congenital Lobar Emphysema: A Rare Cause of Persistent Respiratory Distress in Neonatal Intensive Care

Congenital lobar emphysema (CLE) is a rare congenital anomaly of the lung causing excessive aeration of one or more lobes of a histologically normal lung. It manifests in the first weeks of life and rarely in the neonatal period, with respiratory distress due to compression atelectasis and often associated with mediastinal displacement. CLE poses a challenge in terms of diagnosis and positive pressure ventilation due to air trapping. We report the case of a newborn presenting with persistent respiratory distress. A thoracic CT scan was performed, confirming the diagnosis of CLE. The definitive diagnosis is provided by histology of the operative specimen, revealing emphysematous lesions. Treatment involves lobectomy after stabilization of respiratory function. Surgical abstention is possible for asymptomatic or paucisymptomatic lesions.

Images of Extremely Rare Cantrell Phenomenon.

We present a case of a neonate born with prenatal diagnosis of Cantrell syndrome and ectopia cordis. This extremely rare congenital disorder underscores the significant need for multimodality imaging to plan further management. The aim of the study was to present the thoracoabdominal syndrome using a three-dimensional computed tomography angiography. The CT scans confirmed complex intracardiac defects consisting of tetralogy of Fallot, total anomalous pulmonary venous return and persistent left superior vena cava. In conclusion, Cantrell syndrome necessitates a multidisciplinary approach, from the onset of the prenatal diagnosis followed by prompt medical imaging and surgical interventions after birth. The thoracoabdominal wall defect including complete ectopia cordis is an extremely rare disorder with a fatal outcome.

Antenatally detected megaurethra: A challenging prenatal diagnosis of Prune Belly syndrome

Prune Belly Syndrome (PBS) is a rare congenital disorder characterized by a triad of urinary tract dilatation, abdominal wall musculature deficiency and bilateral cryptorchidism. Here, we present a case report of a 31-year-old woman referred to our department for ultrasound examination at 22 weeks and 2 days of gestation due to fetal bladder dilation.

Role of Video Assisted Thoracoscopic Surgery (VATS) in the Management of Pulmonary Sequestration; A Meta-Analysis

Background: Pulmonary sequestration is a rare birth defect. It is a nonfunctioning dysplastic lung tissue without connection to the tracheobronchial tree, and its blood supply is from one or more aberrant systemic arteries. The aim of this study is to review the current literature regarding the role of video-assisted thoracic surgery (VATS) in the management of pulmonary sequestration. Objective: This review aims to assess the safety, efficacy, and outcomes of Video-Assisted Thoracoscopic Surgery (VATS) in managing pulmonary sequestration while considering patient characteristics, symptoms, arterial sources, surgical techniques, and postoperative advantages. Methods: The Web of Science, PubMed, MEDLINE, and Google Scholar were searched for articles published in English. Article titles containing the words “Video-Assisted Thoracoscopic Surgery for Pulmonary Sequestration and/or VATS” were filtered out of the search to exclude a large portion of irrelevant studies. The extracted data were analyzed. The data extracted were presented as frequencies and percentages. Results: After excluding the unrelated articles, 27 studies were identified for analysis; most of the studies (18) were case reports, with nine being case series, and the total number of patients who underwent pulmonary sequestration by VATS was 240. Both genders were equally affected (125, 52% were male and 115, 48% were female), the most common presenting symptom was coughing,and the descending thoracic aorta was the most common artery from which the feeders originated. About 149 patients (62.08%) underwent a lobectomy. Conclusion: Pulmonary sequestration can safely be treated by VATS at single or multiple ports with a shorter hospital stay, less postoperative pain, and fewer analgesic requirements.

Genetics of glycosylation in mammalian development and disease.

Glycosylation of proteins and lipids in mammals is essential for embryogenesis and the development of all tissues. Analyses of glycosylation mutants in cultured mammalian cells and model organisms have been key to defining glycosylation pathways and the biological functions of glycans. More recently, applications of genome sequencing have revealed the breadth of rare congenital disorders of glycosylation in humans and the influence of genetics on the synthesis of glycans relevant to infectious diseases, cancer progression and diseases of the immune system. This improved understanding of glycan synthesis and functions is paving the way for advances in the diagnosis and treatment of glycosylation-related diseases, including the development of glycoprotein therapeutics through glycosylation engineering.

Long-term assessment of functional outcome in operated cases of Hirschsprung disease

Background: Hirschsprung disease (HD) is a rare congenital anomaly (1 in 5000 live births) characterized by varying levels of aganglionosis. The evolution of surgical options and outcomes for the successful management of HD has been driven by the aspiration of pediatric surgeons. Hirschsprung's disease postoperative results of pull-through procedure could be influenced by surgical and pathological proficiency and the quality of perioperative care. Controversies persist as to which technique offers the best outcome. The absence of incontinence and constipation remains the most important marker of a good outcome. Methods: Medical records of HD children who underwent temporary colostomy procedures were analyzed retrospectively from July 2017 to June 2021. Risk factors were evaluated to determine the outcome of HD procedures. Results: Ninety-two HD patients were included. Based on the univariate analysis, most patients in the study (58.7%) were between the ages of 2 and 12 months. The study population predominantly consisted of males (68.5%) who had low vegetable intake (65.2%) and occasionally exhibited stool stains (66.3%), but their stool consistency was mainly normal (47.8%). Further examination through bivariate analysis revealed a significant negative correlation between stool stains and SOAVE (name of the condition). Similar findings were observed for stool consistency, indicating a significant correlation. Consequently, both variables were subjected to multivariate analysis. The multivariate analysis demonstrated a significant association between stool consistency and SOAVE among patients aged 2-12 months (p=0.000, OR =2.044E-7) and those aged 1-5 years (p=0.000, OR =2.044E-7). An odds ratio (OR) value of less than 1 implies that individuals with normal stool consistency have a lower likelihood of experiencing SOAVE at a young age. Conclusions: This study showed that children with HD correlated with low daily vegetable intake. Normal feces were associated with higher SOAVE ages and a lower possibility of experiencing SOAVE at a young age.

(What's the story) morning glory? MRI findings in morning glory disc anomaly.

Morning glory disc anomaly (MGDA) is a rare congenital ophthalmologic disorder. Historically it has been diagnosed fundoscopically, with little in the literature regarding its imaging findings. The purpose of this study is to further characterize the orbital and associated intracranial magnetic resonance imaging (MRI) findings of MGDA in our tertiary pediatric center. A retrospective review was performed of fundoscopically-diagnosed cases of MGDA, that had been referred for MRI. All MRI studies were scrutinized for orbital and other intracranial abnormalities known to occur in association with MGDA. 18 of 19 cases of MGDA showed three characteristic MRI findings: funnel-shaped morphology of the posterior optic disc, abnormal soft tissue associated with the retrobulbar optic nerve, and effacement of adjacent subarachnoid spaces. The ipsilateral (intraorbital) optic nerve was larger in one patient and smaller in six. The ipsilateral optic chiasm was larger in two patients and smaller in one. This study represents a comprehensive radiological-led investigation into MGDA. It describes the most frequently-encountered MRI findings in MGDA and emphasizes the importance of MRI in this cohort, i.e., in distinguishing MGDA from other posterior globe abnormalities, in assessing the visual pathway, and in screening for associated intracranial abnormalities - skull base/cerebral, vascular, and facial. It hypothesizes neurocristopathy as an underlying cause of MGDA and its associations. Caliber abnormalities of the ipsilateral optic nerve and chiasm are a frequent finding in MGDA. Optic pathway enlargement should not be labeled "glioma". (239/250).

Structural Rhinoplasty as an Effective Surgical Approach for Frontonasal Dysplasia.

Frontonasal dysplasia (FND), a rare congenital craniofacial disorder, primarily influences the development of midline craniofacial structures. A notable manifestation of this condition is nasal hypoplasia. This report details the treatment of a 19-year-old male patient diagnosed with FND accompanied by a severe case of nasal hypoplasia. The authors used structural rhinoplasty to achieve total nasal reconstruction. Albeit with some minor sequelae, the outcome of this surgery was markedly positive, enhancing both the cosmetic appearance and functional capacity of the nose. This case underscores the effectiveness of structural rhinoplasty as a feasible therapeutic approach for individuals suffering from FND and its associated nasal hypoplasia.

Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report

BackgroundSirenomelia or sirenomelia sequence, also known as mermaid syndrome, is a rare congenital anomaly involving the caudal region of the body. The syndrome is characterized by partial or complete fusion of lower extremities, renal agenesis, absent urinary tract, ambiguous external genitalia, imperforate anus, and single umbilical artery. Sirenomelia is often associated with several visceral congenital malformations, rendering it invariably incompatible with extrauterine life.Case presentationWe present the case of 22-year-old Black African woman who delivered a term newborn by caesarean section at a gestation age of 37 weeks due to obstructed labor with fetal distress. The newborn was a fresh stillbirth weighing 2100 g and had fusion of the lower extremities, a single upper limb, ambiguous genitalia, imperforate anus, and a cleft lip. The mother had made only two prenatal visits, at which she was found to be normotensive and normoglycemic. She was not screened for routine fetomaternal infections and missed supplementation for folic acid during the critical first trimester. She did not undergo any obstetric ultrasonography. The parents of the newborn were not close relatives and there was no family history of consanguinity. Further genetic testing was not performed due to lack of laboratory capacity, and post mortem examination was not permitted due to cultural taboo and restrictions relating to handling of deceased newborns.ConclusionSirenomelia is a rare congenital malformation with very poor prognosis. Specific interventions during pre-conception and early prenatal care are critical in the prevention of specific congenital anomalies. Early obstetric ultrasonography is invaluable for diagnosis of sirenomelia as well as counseling for possible termination of pregnancy.

A Case Series of Imaging Nuances of Persistent Craniopharyngeal Canal – Connecting the Pharynx to Brain!

Abstract Persistent craniopharyngeal canal (PCPC) is a rare congenital anomaly arising from the incomplete closure of the craniopharyngeal canal during embryological development. Imaging plays a crucial role in identifying and understanding the anatomical characteristics and guiding appropriate management strategies. We present a series of four cases of PCPC with varied and unexpected clinical presentations along with details of imaging nuances and management implications, emphasizing the importance of radiodiagnosis in guiding appropriate management strategies. From incidental diagnosis in an asymptomatic adult to a symptomatic syndromic child, the PCPC has a wide clinico-radiological spectrum of presentation as well as management challenges.

Thyroiditis revealing a rare congenital anomaly: about 3 cases

Thyroiditis revealing a rare congenital anomaly: about 3 cases