Chemotherapy induced juvenile dermatomyositis: a novel presentation- a case report.

BACKGROUND: Idiopathic connective tissue disease juvenile dermatomyositis (JDM) is characterised by inflammatory myositis and distinctive skin abnormalities. Only a few cases of Dermatomyositis (DM) owing to chemotherapy used to treat cancer have been reported, despite the fact that the link between DM and cancer in adults is widely known. We describe the case of a female, age 14, who experienced DM as a side effect of chemotherapy following enucleation for retinoblastoma. We also discussed our patient's likely pathophysiology of JDM after treatment. CASE PRESENTATION: A 14-year-old female came to our facility complaining of trouble walking and bluish-black discoloration on her neck, elbows, forehead, and knees that had been present for eight months. The patient had undergone enucleation of the left eye due to retinoblastoma, followed by 40 cycles of radiation therapy and 13 cycles of chemotherapy with Cyclophosphamide, Etoposide, Carboplatin, Vincristine, and Dactinomycin. Her serum LDH and CPK levels were high, and she tested positive for ANA. The muscle biopsy was consistent with the changes of DM. When electromyography was performed, it revealed tiny, fibrillating, polyphasic motor unit potentials and sharp, positive waves that were suggestive with DM. A diagnosis of JDM was made after taking into account the symptoms, biochemical data, muscle biopsy, and electromyography results. The patient's symptoms started to get better once methotrexate and oral corticosteroids were started. CONCLUSION: This case report emphasises the value of ongoing observation after cancer chemotherapy because specific cutaneous and muscle symptoms may lead paediatricians to consider the possibility of chemotherapy-induced JDM, which is uncommon in young patients.

Concurrent central diabetes insipidus and cerebral salt wasting disease in a post-operative case of craniopharyngioma: a case report.

BACKGROUND: Water and electrolyte disorders commonly encountered in children post-surgery involving hypothalamus and posterior pituitary, are central diabetes insipidus, syndrome of inappropriate secretion of anti-diuretic hormone and cerebral salt wasting disease. Delayed diagnosis and inadequate management of such cases may lead to worsened neurological outcomes with a high mortality rate. CASE PRESENTATION: Here we report the case of a 7-year-old girl who underwent surgical resection of a craniopharyngioma, following which she initially developed central diabetes insipidus. However, later on in the course of her illness she developed symptomatic hyponatremia with natriuresis which was diagnosed to be due to cerebral salt wasting disease. This combination of central diabetes insipidus and cerebral salt wasting syndrome is a rare occurrence and poses a diagnostic challenge. Diagnosis and management can be even more difficult when these conditions precede or coexist with each other. CONCLUSION: In such cases development of hyponatremia should always prompt consideration of unusual causes like cerebral salt wasting disease in addition to the classically described syndrome of inappropriate secretion of anti-diuretic hormone. Hence, a thorough knowledge of these disorders along with intensive monitoring of fluid and sodium status is critical for timely diagnosis and management of these patients.

Predictive Efficacy of Pediatric Logistic Organ Dysfunction-2 Score in Pediatric Intensive Care Unit of Rural Hospital.

AIMS AND OBJECTIVES: Utility of pediatric logistic organ dysfunction-2 (PELOD-2) score on day 1 within 1 hour of admission in predicting mortality in children admitted in pediatric intensive care unit (PICU). BACKGROUND: Various scoring systems aid to evaluate the patient's mortality risk in the intensive care unit (ICU) by assigning a score and predicting the outcome. Critically ill children are characterized by large variations in the normal body homeostasis. These variations can be estimated by the change of the physiological variables from the normal range. Various scores are constructed from deviations of these changed variables. One such score, the PELOD-2 score, is used to predict mortality of patients admitted in PICU. MATERIALS AND METHODS: This study was carried out at a tertiary care center in central India to study the utility of PELOD-2 score within 1 hour of admission to predict mortality in patients admitted in PICU. RESULTS: Total 129 patients were included in this study with mean age of 67 months. The system with highest admission was central nervous system with 42 children and 16.6% mortality, whereas those 7 patients with hematological system involvement had highest mortality of 28.5%. The mortality rate was 15.55%. In our study for PELOD-2 within 24 hours of admission, the area under receiver operating curve was 0.87 and the Hosmer-Lemeshow test was p = 0.42. CONCLUSION: Pediatric logistic organ dysfunction-2 score in our study had significant association with mortality along with the Hosmer-Lemeshow goodness-of-fit test showing a good prediction of mortality. HOW TO CITE THIS ARTICLE: Deshmukh T, Varma A, Damke S, Meshram R. Predictive Efficacy of Pediatric Logistic Organ Dysfunction-2 Score in Pediatric Intensive Care Unit of Rural Hospital. Indian J Crit Care Med 2020;24(8):701-704.

Facile synthesis of molybdenum disulfide (MoS2) quantum dots and its application in humidity sensing.

Molybdenum disulfide (MoS2) quantum dots (QDs) are successfully synthesized by facile synthesis using ultrasonication assisted liquid exfoliation technique. The high and low boiling point solvents: N-methyl-pyrrolidone (NMP) and ethanol-water solution have been used for synthesis of MoS2 QDs. Similar size distribution of MoS2 QDs synthesized in two different solvents have been observed from the transmission electron microscopy and average size of these QDs are ∼5 nm. The film of MoS2 QDs is used to fabricate humidity sensor. The large edge to volume ratio and high surface active sites of QDs enhanced the water adsorption even at low humidity environment (<37% RH). The humidity sensing analysis shows that sensing film of MoS2 QDs synthesized in ethanol-water has an average sensitivity of 2.78 MΩ/%RH with fast response time (11 s), good repeatability and high stability. In view of these results, the work is highly applicable to fabricate high performance MoS2 QDs humidity sensor.

Fever Unveiling a Hidden Cardiac Condition: A Case of Pediatric Hypertrophic Obstructive Cardiomyopathy.

This case report presents the clinical management of a 18-month-old female child who presented with fever, cough, and cold symptoms for eight days. Despite initial treatment with antipyretic syrup, the persistence of symptoms prompted further evaluation, revealing signs of hypertrophic obstructive cardiomyopathy (HOCM) on echocardiography. The patient was subsequently initiated on beta-blocker therapy and supportive care, leading to clinical improvement and eventual discharge. This case underscores the importance of considering cardiac etiologies in pediatric patients presenting with nonspecific symptoms. It highlights the role of timely diagnosis and multidisciplinary management in optimizing outcomes for affected individuals. Further research and awareness efforts are warranted to enhance diagnostic capabilities and refine treatment strategies for pediatric cardiac conditions like HOCM.

Hepatitis A Leading to Severe Vitamin A Deficiency and Bitot's Spots in a Three-Year-Old Male Child: A Case Report.

This case presentation details the clinical journey of a three-year-old male child presenting with fever, abdominal distention, and loose stools. The child's symptoms, unresponsive to initial treatment at two hospitals, led to the discovery of elevated liver enzymes and subsequent referral to a tertiary care center. Clinical examination revealed hepatomegaly, abdominal distension, and non-palpable spleen. Laboratory findings confirmed acute hepatitis, prompting further investigation into the child's dietary history and revealing a potential foodborne infection. The child was diagnosed with hepatitis-associated severe vitamin A deficiency, manifested by Bitot's spots on ophthalmic examination. Prompt initiation of antiviral therapy, nutritional supplementation, and supportive care resulted in a positive clinical response, with resolution of symptoms and normalization of liver enzymes. This case underscores the importance of recognizing nutritional deficiencies in the context of infectious diseases, emphasizing the need for a comprehensive approach to patient care. The successful management of this complex case highlights the significance of interdisciplinary collaboration in ensuring optimal outcomes in pediatric patients with overlapping infectious and nutritional etiologies.

Concurrently Affected by Dengue and Hepatitis A: Exploring the Intricacies of Co-infection in a Comprehensive Case Series.

Based on the examination of four distinct cases, this case series offers a thorough investigation of the intricate relationship between dengue fever and hepatitis A infection. Despite their distinct origins, both illnesses manifest overlapping clinical features, posing considerable diagnostic hurdles, particularly in endemic regions. The cases reveal consistent symptoms such as elevated fever, abdominal discomfort, jaundice, and irregular liver function test results, underscoring the intricate nature of an accurate diagnosis. Variations in age distribution and the severity of symptoms underscore the necessity for tailored treatment approaches. Diagnostic challenges stem from the similarity in clinical presentations and shared laboratory abnormalities, necessitating comprehensive serological assessments. Therapeutic strategies entail a multidisciplinary approach addressing both hepatic and systemic manifestations, with supportive measures ensuring favorable clinical outcomes. Despite the complexities involved, timely interventions facilitate gradual symptom amelioration and successful patient recovery. Informing clinical practice and directing public health actions, this case series provides insightful information about the diagnostic and treatment complications associated with co-occurring dengue fever and hepatitis A infection.

A Comprehensive Review of Innovative Paradigms in Microbial Detection and Antimicrobial Resistance: Beyond Traditional Cultural Methods.

Microbial detection and antimicrobial resistance (AMR) surveillance are critical components of public health efforts to combat infectious diseases and preserve the efficacy of antimicrobial agents. While foundational in microbial identification, traditional cultural methods are often laborious, time-consuming, and limited in their ability to detect AMR markers. In response to these challenges, innovative paradigms have emerged, leveraging advances in molecular biology, genomics, proteomics, nanotechnology, and bioinformatics. This comprehensive review provides an overview of innovative approaches beyond traditional cultural methods for microbial detection and AMR surveillance. Molecular-based techniques such as polymerase chain reaction (PCR) and next-generation sequencing (NGS) offer enhanced sensitivity and specificity, enabling the rapid identification of microbial pathogens and AMR determinants. Mass spectrometry-based methods provide rapid and accurate detection of microbial biomarkers, including matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) and biosensor technologies. Nanotechnology approaches, such as nanoparticle-based assays and nanopore sequencing, offer novel platforms for sensitive and label-free detection of pathogens and AMR markers. Embracing these innovative paradigms holds immense promise for improving disease diagnosis, antibiotic stewardship, and AMR containment efforts. However, challenges such as cost, standardization, and integration with existing healthcare systems must be addressed to realize the full potential of these technologies. By fostering interdisciplinary collaboration and innovation, we can strengthen our ability to detect, monitor, and combat AMR, safeguarding public health for generations.

Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome's Rare Features Across Generations in a Familial Trilogy.

Oro-facial-digital syndrome, specifically Mohr syndrome, is an uncommon genetic disorder characterized by predominant oro-facial anomalies and polysyndactyly. While typically associated with autosomal recessive and X-linked dominant inheritance patterns, this case presents an autosomal dominant mode of transmission. This report documents the clinical presentation of three individuals, a 12-year-old male child and two females, 10-year-old and eight-year-old, who have inherited the disorder from their ancestors. The observed features include post-axial polysyndactyly in both upper and lower limbs, with the male child exhibiting additional manifestations of strabismus and knee joint defects. Symptomatic management is pursued due to the absence of complications, with surgical interventions and subsequent cosmetic repairs planned for all three children. Post-surgical physiotherapy is scheduled as part of their comprehensive treatment plan. The prognosis for this disorder is generally favorable, with a complete recovery anticipated and no complications expected.

Exploring Complexity: A Case Report of a Cystic Hygroma With Complex Congenital Heart Defects and Annular Pancreas in a One-Year-Old Child.

Lymphatic malformations frequently present as benign masses in the neck and clavicle region among infants and young children. Cystic hygroma represents an often-encountered form of lymphatic malformation. This case report details the medical history of a one-year-old girl characterized by a multifaceted medical background, initially exhibiting symptoms of persistent cough, cold, and neck swelling. Further investigations revealed more severe conditions: complex congenital heart defects, including large atrial septal defect (ASD), large ventricular septal defect (VSD), and aorta arising from the right ventricle with cystic hygroma and annular pancreas. The patient underwent various diagnostic tests, including chest X-rays, ultrasound, magnetic resonance imaging (MRI), and computed tomography pulmonary angiogram (CTPA), leading to multidisciplinary treatment involving sclerotherapy for cystic hygroma and supportive therapies. The case underscores the challenges in diagnosing and managing pediatric patients with overlapping conditions and the critical need for continuous follow-up.

Beyond the Norm: A Report of a Rare Case of Sodium Channel 8 Alpha (SCN8A) Gene-Related Epilepsy Unveiled in a Nine-Year-Old Child.

Sodium channel 8 alpha (SCN8A) mutations encompass a spectrum of epilepsy phenotypes with diverse clinical manifestations, posing diagnostic challenges. We present a case of a nine-year-old male with SCN8A gene-associated developmental and epileptic encephalopathies (DEEs), characterized by generalized tonic-clonic seizures (GTCS) since infancy. Despite treatment with multiple antiepileptic drugs (AEDs), including phenytoin, valproate, levetiracetam, carbamazepine, and clobazam, seizure control remained elusive, prompting genetic testing. Whole exome sequencing confirmed a heterozygous mutation (p.Phe210Ser) in SCN8A exon 6, indicative of DEE-13. Functional studies revealed a gain-of-function mechanism in SCN8A variants, resulting in heightened ion channel activity and altered voltage dependence of activation. Despite treatment adjustments, the patient's seizures persisted until topiramate was introduced, offering partial relief. SCN8A, encoding Nav1.6 sodium channels, modulates neuronal excitability, with mutations leading to increased persistent currents and hyperexcitability. Early seizure onset and developmental delays are hallmarks of SCN8A-related DEE. This case highlights the significance of genetic testing in refractory epilepsy management, guiding personalized treatment strategies. Sodium channel blockers like phenytoin and carbamazepine are often first-line therapies, while topiramate presents as a potential adjunctive option in SCN8A-related DEE. Overall, this case underscores the diagnostic and therapeutic complexities of managing SCN8A-related epileptic encephalopathy, emphasizing the importance of long-term monitoring and personalized treatment approaches for optimizing outcomes in refractory epilepsy.

Navigating Complexity in Mandibular Condyle Aplasia and Temporomandibular Joint Ankylosis in a Five-Year-Old Child: A Case Report.

Mandibular condyle aplasia and temporomandibular joint (TMJ) ankylosis represent complex challenges in diagnosis and management, affecting jaw function and facial aesthetics. This case report presents a five-year-old female child with a right-sided small jaw and facial asymmetry due to left-sided TMJ ankylosis. The coexistence of mandibular condyle aplasia and TMJ ankylosis underscores the need for comprehensive evaluation and tailored treatment approaches. Syndromic associations, such as Goldenhar syndrome and Treacher Collins syndrome, further complicate diagnosis and management. Surgical intervention involving left-side gap arthroplasty and reconstruction using a costochondral graft/temporalis fascia was performed under general anesthesia. However, postoperative complications, including decreased mouth opening and left-sided lower motor neuron facial palsy, necessitated further surgical debridement and drainage of an abscess. The case emphasizes the importance of a multidisciplinary approach in addressing complex craniofacial anomalies, with treatment strategies such as bone grafting and tailored surgical interventions offering promising outcomes. Understanding the multifaceted etiology of mandibular condyle aplasia and TMJ ankylosis is crucial for optimal management, highlighting the collaborative efforts required for achieving favorable patient outcomes.

Complex Presentation of Congenital Heart Block and Coexisting Congenital Heart Disease in a One-Year-Old Girl: A Case Report.

Congenital complete heart block (CCHB) is a rare and potentially life-threatening condition, often associated with maternal autoantibodies. We present the case of a one-year-old girl with recurrent respiratory symptoms, ultimately diagnosed with CCHB and congenital heart disease. She exhibited bradycardia and signs of congestive heart failure. A diagnostic workup revealed significant cardiac abnormalities, including dilated chambers, ventricular septal defect, and patent ductus arteriosus. Serological tests for maternal autoantibodies were negative. The child's parents opted for discharge without surgical intervention. This case underscores the importance of comprehensive evaluation and management strategies in patients with congenital heart block, particularly in resource-limited settings.

Navigating Idiopathic Masseter Muscle Hypertrophy in a 14-Year-Old Female Child: A Report of a Unique Case.

This case report documents the clinical journey of a 14-year-old female child experiencing bilateral swelling and pain in the mandibular region, suggestive of idiopathic masseter muscle hypertrophy. This condition, although relatively uncommon, can present itself either unilaterally or bilaterally. While cosmetic concerns, often denoted as a "square face," are commonly expressed by patients, additional symptoms like protrusion, bruxism, or trismus may also be present. The patient reported a gradual and asymptomatic bilateral bulging in the mandible angle region, with an explicit complaint of pain. The physical examination revealed bilateral masseter hypertrophy without accompanying local inflammatory changes. Diagnosing this condition necessitates discerning its characteristics, evaluating clinical and radiographic findings, and excluding more severe pathologies like parotid diseases, lymphangioma, and rhabdomyoma. In cases of diagnostic uncertainty, complementary tests are deemed appropriate. Treatment strategies range from conservative measures to surgical interventions. This investigation aims to fulfill its primary objectives by presenting a case study elucidating the intricacies of idiopathic masseter hypertrophy, detailing associated symptoms, and exploring the spectrum of potential treatment options. Through this exploration, we contribute to the evolving understanding and management of this unique condition, especially within the pediatric age group.

Novel Two-Infusion Pump Technique for Exchange Transfusion in a Hyperbilirubinemic Neonate.

Neonatal hyperbilirubinemia is a common concern in newborns, with ABO blood group incompatibility serving as a significant risk factor for severe jaundice. This case report outlines the successful management of a 2.5 kg female infant born to a primigravida mother with ABO incompatibility-induced hyperbilirubinemia. The neonate, born at 38.4 weeks via lower segment cesarean section, exhibited signs of jaundice at 91 hours of life, prompting screening and subsequent confirmation of serum bilirubin levels 26.4. The decision was made using the American Academy of Pediatrics (AAP) and categorized the child under high risk according to age and bilirubin level to implement a complete exchange transfusion using a novel approach with two infusion pumps. The unique aspect of this case lies in introducing a two-infusion pump technique, one to infuse and one to extract blood by inserting the IV set in opposite directions in the infusion pump to perform the exchange transfusion, aiming to minimize complications associated with traditional methods. Careful handling of umbilical venous and arterial lines, coupled with aseptic precautions, sought to mitigate the risk of sepsis. The procedure, conducted over two hours, demonstrated stability in vital signs and was monitored with a transcutaneous bilirubinometer. Post-transfusion, repeat serum bilirubin tests showed a decrease in bilirubin of 10.1, indicating the success of the novel exchange transfusion method. The infant was discharged after a five-day hospital stay, showcasing this innovative approach's potential efficacy and safety. This case contributes to the evolving strategies in neonatal care and emphasizes the importance of tailored interventions in managing hyperbilirubinemia associated with ABO incompatibility.

Bone Marrow Changes in Septic Shock: A Comprehensive Review.

Septic shock is a life-threatening condition characterized by systemic inflammation resulting from a severe infection. Although the primary focus of sepsis research has traditionally been on the dysfunctional immune response, recent studies have highlighted the important role of bone marrow in the pathophysiology of septic shock. The bone marrow, traditionally regarded as the hematopoietic organ responsible for blood cell production, undergoes significant changes during sepsis, contributing to the overall immune dysregulation observed in this condition. This comprehensive review aims to provide a detailed overview of the bone marrow changes associated with septic shock. It explores the alterations in the bone marrow microenvironment, hematopoietic progenitor cells, and the subsequent effects on leukocyte production and function. Key cellular and molecular mechanisms involved in bone marrow dysfunction during septic shock are discussed, including the dysregulation of cytokines, chemokines, growth factors, and signaling pathways. Furthermore, this review highlights the clinical implications of bone marrow changes in septic shock. It emphasizes the impact of altered hematopoiesis on immune cell populations, such as neutrophils, monocytes, and lymphocytes, and their role in the progression and outcome of sepsis. The potential prognostic value of bone marrow parameters and the therapeutic implications of targeting bone marrow dysfunction are also addressed. The review summarizes relevant preclinical and clinical studies to comprehensively understand the current knowledge of bone marrow changes in septic shock. The limitations and challenges of studying bone marrow in the context of sepsis are acknowledged, and future directions for research are proposed.

The Role of Antiplatelet in the Management of Sickle Cell Disease Patients.

Sickle cell disease (SCD) is a genetic disorder characterized by abnormal hemoglobin, leading to red blood cell deformities and subsequent vaso-occlusive events. Platelet activation and adhesion play a significant role in the pathophysiology of SCD, contributing to the development of complications such as vaso-occlusive events, stroke, acute chest syndrome, and other manifestations. Antiplatelet therapy has emerged as a potential strategy to mitigate these complications by modulating the platelet function and reducing thrombotic events. This review article provides an overview of antiplatelet therapy's role in managing SCD patients. It discusses the pathophysiological abnormalities in the platelet function in SCD, the rationale for antiplatelet therapy, and the evidence supporting its use in various clinical scenarios. The article explores aspirin as the primary antiplatelet agent in SCD, including its mechanism of action, dosing considerations, and efficacy and safety data. Additionally, it highlights other antiplatelet agents, such as clopidogrel, prasugrel, ticagrelor, and emerging therapies under investigation. Clinical applications of antiplatelet therapy in primary and secondary prevention and the management of acute chest syndrome and other SCD complications are also discussed. Safety considerations are emphasized, including bleeding risk assessment, monitoring, and patient selection for antiplatelet therapy. Finally, the review highlights future research and clinical practice directions, including the development of novel antiplatelet agents, combination therapies, and the integration of antiplatelet therapy with other SCD treatments. Overall, this review provides a comprehensive understanding of the current role of antiplatelet therapy in SCD management, the challenges faced, and future directions for improving patient outcomes.

Exploring the Complex Landscape of Delayed Childbearing: Factors, History, and Long-Term Implications.

This review article delves into the intricate landscape of delayed childbearing, shedding light on the factors influencing individuals' decisions to postpone parenthood. In a world undergoing rapid social, economic, and technological transformations, the concept of when and why to become a parent has evolved significantly. We explore historical trends, societal norms, psychological dynamics, policy implications, and prospects surrounding delayed childbearing. This review underscores the diverse influences shaping this trend, from economic considerations and changing cultural perspectives to advancements in reproductive technologies and the complexities of work-life balance. By examining the emotional dimensions and long-term consequences, we comprehensively understand the implications for individuals, families, and societies. As we conclude, we emphasize the importance of addressing challenges and embracing opportunities to create a supportive environment for those navigating the complex decisions tied to delayed childbearing.

Neurodevelopmental Assessment in Children With Congenital Heart Disease by Applying the Denver Developmental Screening Test 2: A Prospective Cross-Sectional Study.

Background Congenital heart conditions often cause developmental delays and impact neurodevelopment throughout one's lifetime. Hence, it is crucial to analyze the impact that heart defects have on the developing brain of a child. The present cross-sectional study was undertaken given the paucity of studies on the developmental status in children with congenital heart diseases (CHDs) in central India, where we tried to evaluate and compare the prevalence of neurodevelopmental delay in individuals with different congenital cardiac disorders. The objectives of our study were, firstly, to utilize the Denver Developmental Screening Test 2 (DDST-2) to evaluate the neurodevelopmental conditions in children with CHD; secondly, to compare the neurodevelopmental state of children with acyanotic CHD (ACHD) and cyanotic CHD (CCHD); and thirdly, to ascertain the prevalence of developmental delay in children with CHD. Methodology The study population comprised children aged six months to six years with two-dimensional (2D) echocardiography confirmation of CHD; those who were critically ill, had genetic syndromes, and were not willing to participate in the study were excluded. The neurodevelopmental assessment was conducted using the DDST-2. The screening looked at each patient's progress in four areas: personal-social, fine motor-adaptive, language, and gross motor. Based on these observations, results were obtained and interpreted. Result Out of 82 children with CHD, the prevalence rate of developmental delay according to the DDST-2 was found to be maximum in the gross motor domain and the least affected in the social domain, which was similar to the analysis of developmental delay by developmental quotient (DQ). The comparative analysis of developmental delay in ACHD and CCHD according to the DDST-2 showed a significant P value only in the gross motor domain. Conclusion The DDST-2 is a straightforward screening tool for determining how well-developed infants with CHD are. The gross motor domain is the most frequently damaged in ACHD and CCHD, followed by the fine motor domain, and the social domain is the least affected. Cyanotic CHD patients are more susceptible to developmental delay than children with ACHD.

A Rare Case of Telecanthus-Hypospadias Syndrome in a Pediatric Patient.

Hypertelorism and hypospadias are the main characteristics of telecanthus-hypospadias syndrome; however, it can also include other midline structural anomalies, such as cleft lip and palate, cryptorchidism, congenital heart problem, laryngotracheal cleft, esophageal fistula, and irregular scrotum. Here, we describe an eight-year-old male who was brought to us for cleft lip repair, but upon evaluation, the other listed anomalies were discovered. He had hypertelorism, hypospadias, a ventricular septal defect, and a history of cryptorchidism. A multidisciplinary approach involved pediatricians, oral surgeons, cardiologists, and pediatric surgeons. The patient underwent surgery for first-stage hypospadias correction and was advised to follow up for additional surgery and maintenance procedures before being discharged. We wish to report this case with the aim to enlighten budding pediatricians and surgeons about this rare syndrome.