Rare Congenital Anomaly Research Articles

Abnormal left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital coronary anomaly, occurring in approximately 1 in 300 000 live births and accounting for roughly 0,5 per cent of all congenital heart defects. Without surgical correction, in more than 90% of cases, the defect leads to death in the first year of life. However, a small subgroup of individuals survive into adulthood. In adults, it can manifest as dyspnoea, angina, palpitations and eventually leads to heart failure, arrhythmia and sudden cardiac death. We summarised 60years of case reports of ALCAPA syndrome in adults and identified 279 patients, the majority of whom were women. In most cases, the diagnosis was based on coronary angiography. The most common symptom was dyspnoea and the least frequent were palpitations. Surgery was performed in 194 patients with a mean age at surgery of 37,46years. The aim of this study is to obtain clinically relevant information that would be unattainable even in large multicentre clinical trials, given the rarity of this anomaly. This is the first review juxtaposing all ALCAPA cases in adults published in 60years.

Interrupted aortic arch (IAA) is a rare congenital defect involving complete discontinuity between the aortic arch and descending aorta. Aberrant right subclavian artery (ARSA) is a common variant, occasionally causing vascular complications. Intracranial aneurysm (IA) rupture leads to subarachnoid hemorrhage (SAH), a life-threatening event. The coexistence of IAA, ARSA, and IA is extremely rare and poses significant diagnostic and therapeutic challenges. This report describes a young patient with type B IAA and ARSA, who also presented with multiple IA. The patient was admitted due to SAH. The extreme vessel angle of the right subclavian artery to the aorta and the reversal of blood flow in bilateral vertebral arteries made cerebral angiography and therapy difficult. In young patients with IA, underlying vascular anomalies affecting hemodynamics should be carefully evaluated. IAA with ARSA poses challenges for vascular access but does not preclude safe and effective endovascular treatment. Comprehensive assessment and individualized planning are essential for favorable long-term outcomes.

Background Oliver-McFarlane syndrome (OMCS) is an extremely rare congenital disorder that presents with hypogonadotropic hypogonadism, long eyelashes and eyebrows, pigmentary retinopathy, peripheral nerve axon neuropathy and other associated features. It is currently known that OMCS is linked to variants in the patatin-like phospholipase domain containing 6 ( PNPLA6 ) gene, but the specific pathogenic mechanism is still unclear. Methods We performed Whole exome sequencing (WES) on the proband and his parents, followed by validation of the findings through Sanger sequencing and Reverse Transcription-Polymerase Chain Reaction (RT-PCR) analysis. Results Sanger sequencing identified two compound heterozygous variants in the PNPLA6 (NM_006702.5) gene in the proband: c.3184G>A (p.Val1062Met) and c.2704-18C>G. According to the ACMG guidelines, the c.3184G>A variant is classified as likely pathogenic, while the c.2704-18C>G variant is discovered for the first time. Segregation analysis further revealed that the c.3184G>A variant was inherited from the father, whereas the c.2704-18C>G variant was derived from the mother—consistent with an autosomal recessive inheritance pattern. RT-PCR detected that the c.2704-18C>G variant caused a 29bp deletion upstream of exon 26, resulting in a splice site mutation (p.His902Alafs108). Conclusion We report a case from China of PNPLA6 gene variants leading to Oliver-McFarlane syndrome, with the patient exhibiting typical characteristics of OMCS. Our findings further substantiate the pathogenicity of PNPLA6 gene variation in OMCS, broadening the established genotypic spectrum of the PNPLA6 gene. These findings enhance the understanding of its pathogenesis and offer perspectives for clinical diagnosis and management.

Abstract The acquisition of surgical skills in highly specialized pediatric surgical procedures – particularly the management of rare congenital anomalies – poses significant educational challenges. Traditional training models relying on apprenticeship and intraoperative exposure are often insufficient due to the rarity and complexity of such conditions. Simulation-based training offers a structured, reproducible, and risk-free environment to practice and refine surgical techniques. This scoping review examines the current landscape of simulation in pediatric surgery, focusing on anorectal malformations (ARM), esophageal atresia (EA), Hirschsprung’s disease (HD) and congenital diaphragmatic hernia (CDH). A dual search strategy was applied: a systematic literature search via PubMed and a structured online search via Google for commercially available simulation models. A range of models was identified across the four index conditions, including low-fidelity, high-fidelity, hybrid, and animal tissue-based simulators. EA and CDH showed the highest diversity in simulation tools, supporting both open and minimally invasive approaches. Several of the models we identified have demonstrated face, content and construct validity, but systematic data on learning outcomes and user satisfaction remain scarce. While low-fidelity models are useful for basic skill acquisition, high-fidelity and hybrid simulations more closely replicate the operative environment and enhance decision-making and technical proficiency. However, access to high-fidelity simulators remains limited due to cost and resource constraints. By identifying current limitations and opportunities of simulation training, this scoping review provides insights into how the sustainable training of the next generation of pediatric surgeons can be mastered.

Persistent left superior vena cava (PLSVC) is a rare congenital anomaly, present in <1% of the population, typically draining into the coronary sinus and right atrium. When an anomalous drainage occurs into the left atrium—directly or via an unroofed coronary sinus—a right-to-left shunt may result, detected by an agitated saline (“bubble”) study from a left-sided vein. We present a rare case mimicking such a shunt. A 33-year-old man with ESRD on hemodialysis was admitted with subacute cough and weight loss, diagnosed with necrotizing MSSA pneumonia. His hospitalization was complicated by respiratory failure, septic shock, and transient effusive-constrictive pericarditis. TTE revealed an EF of 50–55%, normal RV function, small pericardial effusion, mild aneurysmal interatrial septum, and an unexpected bubble study finding: agitated saline injected via a left-arm IV resulted in bubbles first appearing in the left atrium via pulmonary veins (Figure 1), with robust left-sided opacification and delayed right-sided filling. No interatrial transit of bubbles was observed. CT angiography revealed chronic right SVC occlusion with extensive venous collaterals draining into the pulmonary veins (Figure 2), mimicking a PLSVC with unroofed coronary sinus. The SVC occlusion likely resulted from years of central venous catheterizations for dialysis. Thus, common sequelae of chronic illness produced a pattern resembling rare congenital anomalies. This case highlights the importance of careful interpretation of bubble studies, awareness of PLSVC mimickers, and the diagnostic value of multimodality imaging to avoid misdiagnosis, unnecessary testing, and patient burden. A high index of suspicion, combined with correlation across imaging modalities, is critical for accurate diagnosis and optimal patient care.

Background: Dextrocardia is a rare congenital anomaly in which the heart is positioned in the right hemithorax, often accompanied by complex structural abnormalities involving the cardiac chambers and great vessels. In oncology, this condition poses therapeutic challenges, particularly regarding cardiotoxicity risk. A thorough anatomical evaluation is essential to ensure the safety of invasive procedures and systemic cancer therapies. Research Questions: This case report explores how congenital cardiac anatomical variations influence clinical decision-making and cardio-oncology monitoring strategies. Approach: We describe a 35-year-old woman with left-sided invasive ductal carcinoma (HER2-, ER/PR+, Ki-67: 10%) and complex congenital heart disease: dextrocardia, congenitally corrected transposition of the great arteries, pulmonary stenosis, and ventricular septal defect. Pre-treatment evaluation included chest X-ray (Fig.1a), ECG (Fig. 1b), transthoracic echocardiography (Fig. 2), and cardiac MRI (Fig. 3). She underwent mastectomy, radiotherapy, and six cycles of docetaxel/cyclophosphamide chemotherapy. Cardiac function was monitored with serial echocardiograms and cardiac biomarkers (troponin, NT-proBNP). The patient developed heart failure with preserved ejection fraction (HFpEF) during chemotherapy. Clinical management with a loop diuretic and ACE inhibitor led to symptom resolution and clinical stabilization. The patient remained hemodynamically stable, with no drop in left ventricular ejection fraction. Discussion: Docetaxel and cyclophosphamide can be safely administered in dextrocardia, provided standard precautions are observed along with attention to altered cardiac anatomy. In cases with associated congenital heart disease, detailed cardiac imaging is crucial prior to chemotherapy. Serial monitoring with cardiac biomarkers allows early detection of cardiotoxicity. Interestingly, in this patient, dextrocardia led to reduced cardiac exposure during left-sided breast radiotherapy, possibly affording additional protection against radiation-induced myocardial fibrosis, coronary artery disease, and late cardiotoxicity. Conclusion: This case highlights the value of personalized oncology care in patients with congenital heart defects. While dextrocardia does not inherently preclude chemotherapy with agents such as docetaxel and cyclophosphamide, detailed imaging and vigilant clinical and laboratory monitoring are essential to optimize treatment safety and efficacy.

Background: Severe hypoxemia after coronary artery bypass grafting (CABG) is a critical complication. Common preoperative risk factors include chronic pulmonary disease, myocardial infarction, and diabetes. Potential postoperative causes of hypoxemia include atelectasis, pleural effusion, and pulmonary edema. Rarely, anatomical abnormalities such as partial anomalous pulmonary venous return (PAPVR) may also contribute. Case Presentation: A 47-year-old male with gastroesophageal reflux disease and obesity presented with left-sided chest pain. He was diagnosed with non-ST elevation myocardial infarction (NSTEMI) and hypertensive urgency. Cardiac catheterization revealed multivessel coronary artery disease, and he underwent CABG. Intraoperative transesophageal echocardiography (TEE) showed normal biventricular function without intracardiac shunting. Postoperatively, the patient developed persistent hypoxemia requiring high ventilatory support. He became hypotensive, unresponsive to medical therapy and intra-aortic balloon pump (IABP), necessitating venovenous extracorporeal membrane oxygenation (VV ECMO) initiation. Transthoracic echocardiography (TTE) revealed moderate right ventricular (RV) enlargement with preserved left ventricular function. Following clinical improvement, he was decannulated, but hypoxemia recurred within 24 hours, and ECMO was restarted. A contrast-enhanced CT revealed RV enlargement and PAPVR, characterized by left upper lobe vertical vein draining into the left brachiocephalic vein, as shown in the images. Repeat TEE confirmed the diagnosis. Treatment with milrinone, inhaled nitric oxide, and inhaled epoprostenol led to significant hemodynamic and oxygenation improvement. Given the diagnosis and clinical course, the patient was referred for surgical correction of the PAPVR. Discussion: PAPVR is a rare congenital abnormality where one or more pulmonary veins drain into the systemic circulation rather than the left atrium, creating a left-to-right shunt. While often asymptomatic, it can become clinically significant when right ventricle strain occurs, such as post-CABG stress. Conclusion: PAPVR, though rare, should be a part of differential diagnosis in persistent hypoxemia and right ventricular dysfunction after CABG. Early recognition through multimodal imaging, including CT and TEE, is critical. ECMO may be necessary for stabilization while pursuing definitive surgical management.

Background: Persistent left superior vena cava (PLSVC) is a rare congenital venous anomaly that can complicate the anatomy of the right atrium and coronary sinus, posing technical challenges during catheter ablation of atrioventricular nodal reentrant tachycardia (AVNRT). Optimal ablation strategies in this subset remain poorly defined. Methods: We retrospectively analysed 11 patients with PLSVC who underwent typical AVNRT ablation at our centre between 2015 and 2024, identified from a cohort of 2,030 ablations (0.54%). PLSVC was suspected by dilated coronary sinus on transthoracic echocardiogram and confirmed by coronary sinus catheter manipulation or coronary sinus venography. All procedures were performed using the Claris EP Workmate system with right femoral vein access. Due to unstable His catheter positioning from distorted anatomy, fluoroscopic landmarks in the left anterior oblique (LAO 30°) view were used in review screen during radiofrequency ablation. Radiofrequency ablation (RFA) was delivered using a 4-mm non-irrigated Blazer™ catheter (max 40W, 60°C) targeting the slow pathway, guided either by low-amplitude electrograms or anatomical landmarks—primarily the anterior lip of the mid coronary sinus ostium (CSOS). A long sheath (SR0) was used in 5 patients for better catheter stability. Results: The mean age was 38 ± 11 years; 8 were female. Typical AVNRT was inducible in all 11 patients. Immediate procedural success was achieved in 100%, defined by non-inducibility of AVNRT post-ablation with and without isoproterenol. Junctional ectopy during energy delivery was used as a surrogate marker when slow pathway potentials were absent (8/11 patients). Long-term success at 24-month follow-up was 91%, with one recurrence. There were no major complications. In 3 patients, the slow pathway was localized to the posteroinferior septum; in the remainder, ablation was successful within the coronary sinus ostium. Conclusion: In patients with PLSVC, right-sided ablation of typical AVNRT remains effective, despite anatomical distortion. Atypical anterior ablation targets mostly within the Coronary sinus ostium, fluoroscopic guidance, and long sheath support facilitate successful outcomes. Awareness of these adaptations may reduce recurrence and procedural risk in this challenging subset.

Background: Tetralogy of Fallot with absent pulmonary valve (TOF/APV) is a rare congenital heart defect with a broad spectrum of outcomes. A multicenter study of prenatally diagnosed patients found left ventricular (LV) systolic dysfunction predicted fetal demise and prenatal right ventricular (RV) dysfunction predicted overall mortality and branch pulmonary artery (PA) diameter was not predictive of outcome. Research Questions: To evaluate the relationship between prenatal and postnatal echocardiographic measures and whether postnatal echocardiographic findings were associated with morbidity and mortality. Methods: We included liveborn patients from the prenatally diagnosed multicenter cohort. Differences between prenatal and postnatal measures were assessed using the paired t-test. Association between postnatal echocardiographic measures and outcomes were assessed using logistic regression. Outcomes included respiratory arrest, inotrope use, cardiac arrest, extracorporeal membrane oxygenation within 48 hours of birth, surgery during initial admission, death prior to and after discharge. Results: Of 59 patients (42% male), mean gestational age at birth was 37.9 weeks and birthweight 2877 grams. Abnormal genetics were present in 23/53 (39%), with 20/53 (34%) with 22q11 deletion. Postnatal echo had larger branch PA diameters and RV size with increased pulmonary valve (PV) peak velocity and velocity time integral (VTI) and decreased LV function (Table 1). Univariate analysis revealed RV systolic dysfunction to be associated with respiratory and cardiac arrest. LV systolic dysfunction was associated with inotrope use and respiratory arrest (Table 2). Higher PV peak velocity and PV VTI were associated with lower likelihood of inotrope use, respiratory arrest, and surgery during initial admission. RV dilation, RV and LV systolic dysfunction were associated with death prior to discharge. Increased branch PA diameter correlated with respiratory arrest, inotrope use, early surgery, and death prior to discharge (Table 2,3). Conclusions: Signs of poor cardiac output including increased RV dilation and RV or LV dysfunction were associated with poor outcome. Newborns with increased PV peak velocity and VTI after birth had better outcomes, possibly due to better RV systolic function or decreased pulmonary vascular resistance (anatomical or functional). In contrast to prenatal findings, larger branch PA diameter was associated with poor outcome.

Background: Ebstein’s anomaly (EA) is a rare congenital heart defect characterized by apical displacement and abnormal development of the tricuspid valve, resulting in right atrial enlargement and a predisposition to atrial arrhythmias. Typical atrial flutter (AFL), frequently involving the cavo-tricuspid isthmus (CTI), affects up to 21% of individuals with EA. While CTI ablation is the standard of care for typical AFL, it is technically challenging in EA due to complex and distorted right heart anatomy. Objective: To evaluate the current literature on the procedural success, safety, and long-term outcomes of CTI ablation in patients with uncorrected Ebstein’s anomaly. Methods: A scoping review was conducted per PRISMA-ScR guidelines. We systematically searched PubMed, EMBASE, and Scopus using terms such as “Ebstein anomaly,” “atrial flutter,” and “cavo-tricuspid isthmus ablation.” Studies reporting on CTI ablation in patients with uncorrected EA were included. Data on procedural characteristics, success rates, complications, arrhythmia recurrence, and use of adjunctive ablation were extracted and synthesized. Results: Twelve studies encompassing 351 patients with EA undergoing radiofrequency catheter ablation for atrial arrhythmias were included. A total of 234 arrhythmias were targeted across 263 ablation procedures. Immediate post-procedural success—defined as arrhythmia termination following the first ablation—was reported in 158 of 214 patients (73.8%). Long-term success—defined as sustained arrhythmia-free survival after all ablation procedures—was achieved in 142 of 206 patients (63.9%). Detailed outcomes per study are summarized in Tables 1&2. Conclusion: CTI ablation in uncorrected EA is both feasible and effective, despite anatomical challenges such as tricuspid valve displacement, right atrial enlargement, and atrialized right ventricular tissue. Acute success rates are high (73–94%), and recurrence of typical AFL is relatively low (~6.3%). However, long-term follow-up reveals a high incidence (25–50%) of new-onset atrial fibrillation. Intracardiac echocardiography enhances procedural precision and safety. While adjunctive pulmonary vein isolation (PVI) may help mitigate AF development, it is not routinely performed. Individualized ablation strategies informed by detailed anatomical assessment are critical to optimizing patient outcomes in this complex population.

INTRODUCTION: Congenitally corrected transposition of the great arteries(CCTGA) is a rare congenital heart defect characterized by L-looping of the heart tube,resulting in atrioventricular(AV) and ventriculoarterial(VA) discordance.Despite physiologically normal circulation, complications like complete heart block(CHB),VSD,pulmonary stenosis,tricuspid valve regurgitation,and right heart failure are common.Pregnant women with CCTGA may have successful outcomes but face increased maternal and fetal risks,especially with cyanosis or CHB.We report a rare case of a primigravida with CCTGA and CHB who suffered postpartum cardiac arrest from bradycardia-induced polymorphic ventricular tachycardia(PMVT). CASE DESCRIPTION: A 24-year-old primigravida at 35 weeks’ gestation with history of CCTGA presented with fatigue,bradycardia,and reduced fetal movements.Examination revealed bradycardia,cannon waves in the JVP,regular pulse,and varying first heart sound intensity without murmur.EKG showed CHB.Echocardiography revealed situs solitus with levocardia,AV and VA discordance,Ebstein-like systemic AV valve,moderate regurgitation,and reduced systemic ventricular EF.A temporary pacemaker was placed preoperatively,and an emergency cesarean was performed.On postoperative day 11,she had a cardiac arrest with seizure and was resuscitated.ECG showed CHB,narrow QRS escape rhythm,bradycardia-induced PMVT,deep Q waves in lead III,and absent Q waves in lateral leads(Fig.1).She was intubated,admitted to the cardiac ICU,and managed with temporary pacing.After stabilization,she underwent dual-chamber(DDD) permanent pacemaker implantation(Fig.2) and was discharged on medical therapy with dietary advice,pacemaker checks,and regular follow-up. DISCUSSION: CCTGA is rare,occurring in ~0.02 per 1000 live births and comprising <1% of congenital heart disease.It involves AV and VA discordance.Presentation depends on associated lesions,with many patients exhibiting bradycardia from complete heart block,murmur,cyanosis,or heart failure and pregnancy imposes additional hemodynamic stress, making management challenging.Our case underscores this complexity, which was further compounded by bradycardia-induced polymorphic ventricular tachycardia, a rare arrhythmia in this setting.It highlights the importance of continuous cardiac monitoring not only antepartum, but also postpartum, and emphasizes close multidisciplinary monitoring and timely intervention to optimize both maternal and fetal outcomes.

Background: Anomalous aortic origin of a coronary artery (AAOCA) is a rare congenital anomaly affecting around 0.1-0.3% of the population and is a known cause of myocardial ischemia and sudden cardiac death, particularly in young athletes. However, limited national data on AAOCA-related mortality are available. Aims: We aim to characterize trends and demographic disparities in AAOCA-related mortality in the US from 1999 to 2023. Methods: We queried the CDC WONDER multiple-cause-of-death database for AAOCA-related deaths (ICD-10 Q24.5) among all age groups. Age-adjusted mortality rates (AAMR) per 1,000,000 population with 95% confidence interval (CI), stratified by year, sex, race, regions, and urbanization status, were abstracted. Annual (APC) and average annual percent changes (AAPC) were computed by Joinpoint regression. Results: From 1999 to 2023, there were 6,665 AAOCA-related deaths. The overall AAMR fell from 1.1 in 1999 to 0.9 by 2001 (APC: -10.5; 95% CI: -26.0, 8.3), rose to 1.1 in 2008 (APC: 2.2; 95% CI: -1.2, 5.8), declined significantly to 0.5 by 2020 (APC: -4.1; 95% CI: -5.7, -2.4), and then increased to 0.8 by 2023 (APC: 11.7; 95% CI: -3.3, 29.0). Male AAMRs exceeded females (1999: 1.3 vs 0.9; 2023: 1.2 vs 0.4), with women’s mortality significantly declining (AAPC: -3.4; p=0.02) versus stable males (AAPC: 0.09; p=0.9). Amongst races, both from 1999-2020 and 2021-2023, the non-Hispanic (NH) Blacks exhibited the highest AAMR (1.8 vs 1.5), trailed by NH Whites (0.8 vs 0.6) and Hispanics (0.5 vs 0.6); NH Whites saw the greatest decline (AAPC: -0.8; p=0.6). Regionally, AAMRs from 1999-2020 were 0.9 in the Northeast, Midwest, and South and 0.8 in the West. All regions showed a decline in mortality throughout the study period, with the steepest in the Midwest (AAPC: -2.0; p=0.0005). Both urban and rural AAMRs were 0.9, with the rural region showing a steeper but nonsignificant decline (AAPC: -3.8; p=0.1) than urban (AAPC: -1.9; p=0.00006). Among age groups, <44 years mortality declined, with the steepest drop in 15-44 years (AAPC: -3.2; p=0.007), while mortality for >45 years plateaued (AAPC: 0.2; p=0.8). Conclusion: Although AAOCA mortality has declined overall, especially in children and young adults, it remains high among men, NH Blacks, and Midwest residents, and has recently rebounded, underscoring the need for targeted early detection, risk stratification, and surveillance to guide timely interventions in high-risk groups.

Weaver syndrome is a rare congenital overgrowth disorder caused by pathogenic EZH2 variants. This study reports a novel EZH2 variant associated with atypical manifestations, including severe bilateral camptodactyly and complex brain malformations. A 4-year-old Taiwanese female exhibited classical Weaver syndrome features including macrosomia, macrocephaly, hypertelorism, and developmental delay, plus atypical findings of severe bilateral camptodactyly and complex brain malformations. Neuroimaging revealed corpus callosum dysgenesis with rostral agenesis and genu hypoplasia, bilateral frontal lobe hypoplasia, and an arachnoid cyst. The patient demonstrated global developmental delay with marked motor impairment but less severely affected speech and cognition, consistent with mild intellectual disability. Whole-exome sequencing identified a novel de novo pathogenic variant in EZH2: c.449T>C (p.Ile150Thr), affecting a highly conserved amino acid within the SANT domain. This case broadens the clinical spectrum of Weaver syndrome by highlighting severe camptodactyly and complex brain malformations as possible EZH2-related manifestations. The corpus callosum dysgenesis suggests a wider role of EZH2 in neurodevelopment than previously recognized. The novel SANT domain variant may explain the severe phenotypic presentation. The novel EZH2 variant c.449T>C (p.Ile150Thr) expands the molecular and phenotypic spectrum of Weaver syndrome. These findings underscore the importance of comprehensive neuroimaging and molecular genetic testing in suspected cases, particularly atypical presentations.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous disorder characterized by ocular, skin, and central nervous system manifestations. Despite its recognizable clinical features, such as nevus psiloliparus, histopathologic characterization of ECCL remains limited in the dermatopathology literature, and diagnosis is often clinical. This scarcity of published histopathological descriptions makes diagnostic confirmation challenging and underscores the value of synthesizing the available evidence. This comprehensive review synthesizes reported histopathological findings across cutaneous manifestations highlighting key tissue-level features that may aid diagnostic confirmation. Additionally, we review the emerging role of molecular diagnostics, particularly the identification of mosaic activating mutations in FGFR-1 and KRAS, which have been implicated in ECCL pathogenesis. By integrating clinicopathologic correlations with molecular insights, this review aims to enhance our dermatopathological understanding of ECCL, bolstering diagnostic reasoning and clinical decision making for this rare neurocutaneous condition.

Summary: Central ray synpolydactyly is a rare congenital anomaly that presents complex surgical challenges due to the combined presence of digit duplication and fusion. Early recognition and appropriate management are essential to preserve hand function and appearance. This case report describes the successful single-stage surgical management of a 3-year-old girl with right central ray synpolydactyly, a rare congenital hand anomaly combining features of polydactyly and syndactyly. The patient presented with an extra digit on the ulnar side of the middle finger, complete syndactyly with the middle finger, and incomplete syndactyly with the ring finger. Surgical correction involved excision of the extra digit and reconstruction of the third web space using an M-V flap, minimizing the need for skin grafting. Postoperative recovery was uneventful, with no complications, and at the 6-month follow-up, the patient demonstrated a full range of motion, functional independence, and a well-healed scar. This report highlighted the effectiveness of meticulous surgical planning and the M-V flap technique in achieving optimal functional and aesthetic outcomes in central ray synpolydactyly.

Hyperactivation of the m6A demethylase FTO to down-regulate SLC7A11/xCT-mediated redox homeostasis and epigenetic remodeling in facial infiltrating lipomatosis.

In silico analysis identified potential interaction between glutathione and spliceosome in Nager Syndrome.

A woman in the early 30s presented with primary amenorrhoea and absence of vaginal canal, seeking surgical correction as she wished to get married. Further evaluation led to a diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome. She had normal ovarian function and well-developed secondary sexual characteristics. The absence of a functional vagina had caused significant emotional distress, including anxiety, low self-esteem, a sense of incompleteness and social stigma related to marriage. Following confirmation of the diagnosis, a multidisciplinary team successfully performed McIndoe vaginoplasty using a custom-made collapsible mould and a split-thickness skin graft, creating an 8 cm long neovagina. The patient recovered well, regained self-esteem, married and now enjoys a fulfilling personal life, underscoring the transformative impact of coordinated care in such rare congenital anomalies.

Rationale:Proteus syndrome (PS) is a rare congenital disorder characterized by dysregulated overgrowth and an array of complex skeletal anomalies, including scoliosis. The rehabilitation process following spinal surgery has never been reported.Patient concerns:A 10-year-and-3-month-old patient with PS caused by an serine/threonine protein kinase 1 (AKT1) gene mutation, who was referred to our hospital for bilateral lower extremity weakness following scoliosis surgery.Diagnoses:Proteus syndrome.Interventions:The patient received a comprehensive rehabilitation program, including lower limb muscle strength training, passive-active joint mobilization, and joint manipulation, in conjunction with electronic biofeedback therapy and acupuncture, administered by a multidisciplinary rehabilitation team.Outcomes:The patient’s lower limb mobility has improved compared to the initial presentation upon admission, and no complications have been observed.Lessons:The rehabilitation program presented in this study has demonstrated significant efficacy in mitigating muscle weakness in PS patients following surgical intervention for scoliosis.

Klippel-Fiel syndrome (KFS) is a rare congenital disorder characterized by the presence of a triad of short neck, limited neck mobility, and low posterior hairline. A 5-year-old girl of consanguineous parents had limited neck movement and poor growth for three years. Her height was 87cm (SDS -4.6), and her weight was 11kg (SDS-2.8), indicating significant growth retardation. Intelligence was normal for age, but a clinical examination revealed a short neck, limited neck movement, and Sprengel deformity. Although her thyroid function was normal, the growth hormone stimulation test (using clonidine) was borderline low. By karyotyping, a normal female pattern (46, XX) was identified. While the echocardiogram was normal, the ultrasound revealed that the left kidney was absent, along with an infantile uterus. An X-ray of the cervical spine revealed a Sprengel deformity and cervical ribs. Her radiological bone age was delayed. The diagnosis of Klippel-Feil Syndrome was made by using clinical presentation, physical examination, and laboratory investigations. [J Assoc Clin Endocrinol Diabetol Bangladesh, 2025;4(Suppl 1): S59]