Congenital Research Articles

Bart syndrome with musculoskeletal deformity: a rare case report

Introduction: Bart syndrome is a rare genetic disorder characterized by epidermolysis bullosa (EB), aplasia cutis congenita i.e., congenital local absence of skin, and nail abnormalities. Case Presentation: We herein present a case of a 14-year old boy with Bart Syndrome. The syndrome was diagnosed clinically. On examination, multiple generalized blisters were present and absence of nails in toes of both feet and middle finger of left hand which was associated with musculoskeletal deformity. Discussion: Bart Syndrome, an inherited autosomal dominant disorder, is an exceedingly rare disorder. Musculoskeletal deformity is an uncommon presentation of this syndrome. It is mostly associated with Dystrophic type of EB. It is mostly a clinical diagnosis however, histopathological study, direct immunofluorescence, and genetic testing helps in diagnosing the type of EB. Conclusion: The absence of skin in a localized area at birth is a crucial indicator for diagnosing Bart Syndrome at birth which later heals and can obscure the diagnosis. Early diagnosis and conservative management prevent the disease progression and complications.

Clinical Characteristics and Mortality Risk Factors of Hospitalized COVID-19 in Children: An Experience of Two Years Pandemic in Regional Referral Hospital

Coronavirus disease 2019 (COVID-19) has spread worldwide rapidly. COVID-19 in children is relatively mild compared to adults. However, several studies showed high mortality rates in children with underlying diseases. This study aimed to describe the clinical characteristics and outcomes of pediatric COVID-19 cases in regional referral hospital. This study was retrospective observational study using data from Medical Record Dr. Moewardi General Hospital between October 1st, 2020 and October 30th, 2022. The epidemiological and clinical data were extracted from the database and were compared with outcomes of patients. All statistical analyses were performed by SPSS software version 27. This study enrolled 371 (19,9%) children with confirmed RT-PCR SARS CoV-2 from 1856 hospitalized suspected children whereas 55% were males, and 63% aged under 5 years old. Moderate-severe patients accounted for 18% of the cases. Cough (74,4%), fever (66,6%) and shortness of breath (22,6) are the most common symptoms while 99 (26,7%) patients who had chronic diseases with the most common diseases being congenital heart disease, hematological malignancy and neurological disorders. Patient outcomes were significantly related to age, degree of severity and chronic disease with p=0.004, p< 0.001, and p< 0.001 respectively. After performing multivariate regression analysis, degree of severity [p<0.001; adjusted OR = 28.03, 95% CI (10.73–73.21)] was found to be significant predictors for mortality. The clinical and epidemiological data revealed that the majority symptom were cough, fever and shortness of breath. Mortality rate during hospitalization was higher in children with moderate-to-severe COVID-19.

Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype—A Multi-Center Retrospective Study

Background: Noonan syndrome (NS) is a congenital genetic disorder with a prevalence of 1 in 1000 to 2500 live births, and is characterized by distinctive facial features, short stature, chest deformities, and congenital heart disease. This study aims to evaluate the prevalence of specific genetic mutations and their impact on cardiovascular and other outcomes in NS. Methods: We conducted a retrospective clinical study of 25 pediatric patients diagnosed with NS at two institutions: The Mother and Child Health Care Institute of Serbia and the Clinic for Children Diseases, University Clinical Center of the Republic of Srpska. Patients underwent whole-exome sequencing (WES) to identify genetic mutations. Clinical data, including cardiovascular manifestations, psychomotor development, and stature, were analyzed in relation to mutation types. Results: The cohort comprised 60% male and 40% female patients, with a median age at diagnosis of 7.2 years. Cardiovascular abnormalities were present in 88% of patients. Mutations in PTPN11 were most commonly associated with pulmonary valve stenosis (PVS), while RAF1 mutations were prevalent in patients with hypertrophic cardiomyopathy (HCM). No significant association was found between cardiac disease and delayed psychomotor development (p = 0.755), even though the likelihood ratio showed significance in that regard (p = 0.018). Short stature was observed in 48% of patients but was not significantly correlated with genetic type of disease, presence of cardiac disease, or developmental delay. Conclusions: The study confirms the high prevalence of cardiovascular manifestations in NS and highlights genotype–phenotype correlations. While cardiac abnormalities are common, their impact on psychomotor development and stature is less clear. Further research is needed to explore genetic interactions influencing these outcomes and refine clinical management strategies.

The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG)

Abstract Objectives Congenital disorders of glycosylation (CDG) are a family of rare inherited metabolic disorders. This study aimed to examine the carbohydrate-deficient transferrin (CDT) screening results of 1,328 patients with suspected CDG by using transferrin- high pressure liquid chromatography (Tf- HPLC) method and to evaluate the performance of the method as a reference diagnostic tool. Methods Relative CDT levels (CDT concentrations expressed as percent of total transferrin) were determined in serum samples by HPLC. The method sensitivity, specificity and positive predictive value (PPV) were further calculated. Results Abnormal transferrin isoform profile consistent with CDG Type-I and CDG Type-II were determined in 50 cases; in 44 cases asiolo-Tf (7.63 ± 5.44 %) and disialo-Tf (36.29 ± 9.04 %), in six cases monosialo-Tf (3.95 ± 0.95 %) and trisialo-Tf (25.05 ± 4.46 %) were determined and decreased tetrasialo-Tf (49.75 ± 11.59 %) was identified in all cases. Two cases having abnormal CDT pattern were molecularly diagnosed with hereditary fructose intolerance and galactosemia and 11 cases diagnosed with CDG based on clinical and molecular analysis showed a normal pattern. The sensitivity, specificity and positive predictive values of Tf-HPLC method were 81.96 %, 99% and 96 %, respectively. Conclusions Tf-HPLC is a useful, highly sensitive, cost-advantageous and reliable method for the detection and preliminary diagnosis of CDG for laboratories working with large sample series.

A Stillborn Baby with Tetra-amelia Syndrome in Jember: A Case Report

Tetra-amelia syndrome is a rare congenital disorder characterized by the absence of all four extremities. This extremity disorder occurs in 1 in 1,300 to 2,000 births. This condition is caused by genetic mutations in the WNT3 and RSPO2 genes. Specific risk factors for tetra-amelia syndrome remain unclear. This is also due to the lack of studies that discuss specific risk factors for tetra-amelia syndrome. In this case report, we discuss a stillborn baby with tetra-amelia syndrome to a mother with various pregnancy risk factors in Jember. This case report aims to examine the presence of several risk factors in the mother and their relationship with congenital disorders, especially tetra-amelia syndrome.

Psychological well‐being of women with uterine infertility before considering uterus transplantation as a treatment option

BackgroundWhile uterus transplantation offers a promising treatment option for women with uterine factor infertility (UFI), the potential for graft failure and lack of organ availability could have subsequent psychological repercussions for women. Exploring baseline psychological well‐being for women with UFI who could become uterine transplant recipients is essential to identify specific psychological challenges to be considered prior to transplantation. UFI can be congenital uterine absence, namely Mayer‐Rokitansky‐Küster‐Hauser syndrome (MRKH), or acquired uterine absence (hysterectomy).ObjectiveTo analyse baseline psychological well‐being among women with UFI.Design and settingA survey including demographic data and two internationally validated psychological questionnaires, Depression, Anxiety and Stress Scale (DASS‐21),13 and Fertility Quality of Life (FertiQoL), was disseminated to women with UFI. Data from these instruments was compared between groups and then to data that uses these tools in the general infertility population.Results/outcomesThe study included 39 women (mean age 29.54 years). Higher scores for moderate symptoms of depression, anxiety, and stress were reported for the entire UFI cohort. More women with congenital UFI showed ‘severe’ symptoms for depression/anxiety, compared to women with acquired UFI. Women with acquired UFI showed poorer FertiQoL scores compared to both women with congenital UFI and to the general infertility population scores in previously published data.ConclusionClinicians should consider accessing increased psychological support for women with UFI when discussing fertility options including uterine transplant, and they may need to tailor this support depending on whether the patient has congenital or acquired UFI.

Expert Opinion for Defining a Severe Bleeding Phenotype to Guide Prophylaxis in Patients with Nonsevere Hemophilia

AbstractProphylaxis is the standard of care for patients with severe hemophilia, patients with moderate hemophilia, or those with another congenital bleeding disorder that is associated with a severe bleeding phenotype and/or a high risk of spontaneous life-threatening bleeding. Patients with nonsevere hemophilia (factor VIII [FVIII] ≥ 1%) may also have a bleeding phenotype that requires prophylaxis. To date, however, there are no clear criteria as to when prophylaxis is indicated in these patients. Also, the term “severe bleeding phenotype (SBPT)” is neither included in the definitions of the International Society on Thrombosis and Haemostasis (ISTH) nor specified in the World Federation of Hemophilia (WFH) guidelines. Based on our personal experience and available evidence, we propose the criteria we use to define an SBPT and when we consider offering prophylaxis in patients with nonsevere hemophilia. Our proposals can be the basis for discussions in the community about the assessment of SBPT and the initiation of prophylaxis in patients with nonsevere hemophilia without inhibitors.

Abstract 4119744: Evaluation of Neuropsychological development and Factors Affecting it in Children With Cyanotic and Acyanotic Congenital Cardiac Disease After Surgical Treatment

Objective: To evaluate neuropsychological development in children with cyanotic and acyanotic congenital heart diseases (CHDs) after surgical treatment and analyze the risk factors. Methods: 89 children who received follow-up in Fuwai Hospital after surgical treatment of CHDs were recruited in this study and 90 normal children were recruited as the control group. The children with CHDs were divided into cyanotic CHDs group and acyanotic CHDs group. Neuropsychological development was assessed according to Pediatric-psychological mental test scale and statistical analysis was employed. Results: The acyanotic CHDs group achieved better distribution of development quotient than cyanotic CHDs group (p < 0.05) but worse than the normal control group (p = 0.004). The proportion in cyanotic CHDs group with developmental quotient below the moderate level was higher than that of the normal control group (p < 0.001), but there was no significant difference between the cyanotic CHDs group and acyanotic CHDs group (p = 0.055). Multivariate regression analysis indicated that for cyanotic CHDs group, younger age at cardiac surgery, lower body mass, lower preoperative blood glucose level, lower BIS level, and prolonged duration of tracheal intubation after surgery were linked with lower scores in the test scale (p < 0.05); for acyanotic CHDs group, younger age at cardiac surgery, lower body mass, lower temperature during surgery and prolonged duration of tracheal intubation after surgery were linked with lower scores in the test scale(p < 0.05). Conclusion: Distinct neuropsychological impairment could be present in children with cyanotic CHDs. Younger age at cardiac surgery, body mass, preoperative blood glucose level, BIS level during surgery, temperature during surgery and duration of tracheal intubation after surgery were perioperative factors that could influence long-time neuropsychological development in children with CHDs.

Cerebrotendinous Xanthomatosis (CTX) Disease Prevalance in Patients with Autism Spectrum Disorder (ASD): A Prospective Observational Study

Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive congenital metabolic disorder which is characterized by the impairment of the enzymatic activity of sterol 27-hydroxylase. CTX, a rare neurodegenerative disease of sterol metabolism, can affect multiple systems, including the nervous system.It has been demonstrated that many congenital metabolic diseases like CTX are associated with Autism Spectrum Disorder (ASD). The aim of this study is to identify the prevalence of CTX disease in patients with ASD. Method: The clinical conditions of all patients were evaluated using the Mignarri Scoring Index. A socio-demographic form and Gilliam Autism Rating Scale-2 were applied to all participants. Results: In total, 101 children and adolescents with ASD were analyzed for genes. Following genetic analyses, four patients with mutations in the CYP27A1 gene, two homozygous variants and two different heterozygous mutations were identified. Most common symptom was diarrhea. 67.3% of all patients and 3 in 4 cases with CYP27A1 gene mutation had gone through psychiatric evaluation. A family history of a psychiatric disorder was present in 19.8% of all cases and in 75% of cases with mutations.Moreover, all mutant cases had comorbid Oppositional Defiant Disorder (ODD). 81.2% of all patients and all mutant patients were diagnosed with a behavioral disorder. Conclusion: psychiatric manifestations ranging from personality changes to behavioral disorders might accompany CTX. Better understanding and knowledge of the CTX disease by distinguishing specific psychiatric and systemic symptoms might help prevent missed diagnoses, progressive neurological deterioration and permanent disability through early initiation of chenodeoxycholic acid treatment.

Evaluation of pitolisant, sodium oxybate, solriamfetol, and modafinil for the management of narcolepsy: a retrospective analysis of the FAERS database

ObjectiveNarcolepsy, a rare neurological disorder believed to have an autoimmune etiology, necessitates lifelong management. This study aimed to provide evidence supporting the safety of pharmacological treatment for narcolepsy.MethodsFive-year data on pitolisant, sodium oxybate, solriamfetol, and modafinil were extracted from the FDA Adverse Event Reporting System (FAERS) self-reporting database for the period spanning from 2019 to 2023. Various statistical methods, including the reporting odds ratio (ROR), proportional reporting ratio (PRR), Bayesian confidence propagation neural network analysis (BCPNN), and multi-item gamma Poisson shrinker (MGPS), were employed to quantify the signals. Finally, a comparative analysis was conducted between demographic data, outcomes, and inherent associations among the medications and the signals.ResultsAfter data analysis, we obtained 50 signals (a cumulative count of 762 cases) for pitolisant, 640 signals (corresponding to 46,962 cases) for sodium oxybate, 40 signals (equivalent to 1,228 cases) for solriamfetol, and finally, 72 signals (representing 632 cases) for modafinil. The majority of these patients were female. Psychiatric and nervous system disorders were identified as the predominant adverse drug events (ADEs). For sodium oxybate, it is crucial to consider psychiatric disorders (such as suicidal ideation), respiratory disorders (including sleep apnea syndrome and respiratory depression), and signs of pregnancy and congenital familial diseases. For solriamfetol, noteworthy new ADEs include drug inefficacy, suicidal ideation, restless legs syndrome, and somnambulism. Furthermore, a relationship has been observed between modafinil use and restricted fetal growth, spontaneous abortion, cognitive disorders, and drug inefficacy and abuse.ConclusionThe majority of observed adverse reactions in this study were consistent with those listed in the product instructions. However, potential novel or notable ADE signals were identified through real-world pharmacovigilance analysis. It is anticipated that this paper will offer additional information regarding safe and rational medication for narcolepsy.

A prediction model of echocardiographic variables to screen for potentially correctable shunts in adult ASD-PAH patients

Background: Atrial septal defect (ASD) is a prevalent congenital heart condition in adults that leads to pulmonary hypertension (PAH) and right heart failure if left untreated. During a routine follow-up of adult ASD-PAH patients, the suitability of shunt closure depends on the invasive right heart catheterization (RHC). Nevertheless, performing RHC at every follow-up is impractical and may be harmful. The present retrospective cross-sectional study was designed to investigate which echocardiographic variables are related to pulmonary vascular resistance (PVR) in adult ASD-PAH patients and proposed a model using these variables to screen for patients with a correctable shunt. Methods: A total of 530 adult ASD-PAH patients with pulmonary arterial systolic pressure (PASP) of ≥60 mmHg measured using transthoracic echocardiogram (TTE) were included in the study. All RHCs were performed within 3 months after TTE. The correctable shunt was defined as PVR ≤3 wood units (WU). Multivariate regressions were performed utilizing echocardiographic variables. A scoring system was constructed based on the predictors of PVR ≤3 WU using multivariate logistic regression analysis. The scoring system was then examined using a receiver operating characteristic (ROC) analysis. In addition, clinical utility of the model was determined based on decision curve analysis and a calibration curve was used to evaluate model conformity. Results: Estimated pulmonary arterial systolic pressure, velocity through the pulmonary valve, tricuspid annulus early diastolic velocity, and maximum defect dimension were identified as independent predictors. The area under the ROC curve of the predictive value in the model was 0.905 [95% confidence interval (CI): 0.878–0.931, sensitivity: 84.3%, specificity: 83.6%]. The net benefit of the model was notable in terms of a wide-range probability threshold in decision curve analysis, indicating that the prediction model had good clinical applicability. The model’s calibration curve was close to an ideal diagonal line, showing good predictive accuracy between the actual and predictive probabilities. Conclusion: The study model was demonstrated to be valuable in predicting adult ASD-PAH patients with a correctable shunt, which may help clinicians to make appropriate treatment decision for follow-up patients.

Dentistry and Sturge–Weber syndrome: Case report and narrative review

AbstractSturge–Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a rare congenital disorder that affects the skin, brain, and eye. It is characterized by facial port‐wine stains, leptomeningeal angiomas, and glaucoma. SWS can also cause neurological complications, such as seizures, headaches, cognitive impairment, and stroke. Antiepileptic drugs that are used to treat seizures associated with SWS lead to the development of gingival hyperplasia which requires non‐surgical and/or surgical dental treatment. The purpose of this case report and narrative review is to provide an overview of the etiology, pathophysiology, clinical features, diagnosis, and treatment of SWS. This paper will also discuss the oral manifestations and dental considerations of SWS.

A Case Report of a New Variant Associated with Vici Syndrome in a Turkish Infant; EPG5 Frameshift Variant

Introduction: Vici syndrome is a congenital multisystem disorder characterized primarily by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency, and oculocutaneous hypopigmentation, along with additional newly recognized findings. Autosomal recessive variants in the EPG5 gene, which encodes ectopic P-granules autophagy protein 5 (EPG5), a key regulator of autophagy, are known genetic causes of this syndrome. The aim of this case report is to present a novel disease-causing variant identified through EPG5 gene sequence analysis. Case Presentation: We report on a 2-month-old Turkish girl who presented with developmental delay, bilateral congenital cataracts, microcephaly, hypotonia, hypertrophic cardiomyopathy, hypopigmented skin lesions, and agenesis of the corpus callosum. Genetic analysis revealed a homozygous c.7504delC (p.Gln2502Argfs*4) frameshift variant in the EPG5 gene, which has not been previously documented. Conclusions: Adding a new variant to the literature is crucial, as it highlights the feasibility of reaching an accurate diagnosis through well-conducted physical examination findings in patients with early developmental delay. This case also raises awareness about such rare diseases. Moreover, recognizing new mutations is critical for understanding atypical findings, prognosis, treatment responses, and the genetic risks for other family members.

A Review of Sturge–Weber Syndrome Brain Involvement, Cannabidiol Treatment and Molecular Pathways

Sturge–Weber syndrome (SWS) is a rare congenital neurocutaneous disorder typically caused by a somatic mosaic mutation in R183Q GNAQ. At-risk children present at birth with a capillary malformation port-wine birthmark. The primary diagnostic characteristic of the disorder includes leptomeningeal enhancement of the brain, which demonstrates abnormal blood vessels and results in impaired venous drainage and impaired local cerebral perfusion. Impaired cerebral blood flow is complicated by seizures resulting in strokes, hemiparesis and visual field deficits, hormonal deficiencies, behavioral impairments, and intellectual disability. Therefore, anti-seizure medication in combination with low-dose aspirin is a common therapeutic treatment strategy. Recently published data indicate that the underlying mutation in endothelial cells results in the hyperactivation of downstream pathways and impairment of the blood–brain barrier. Cannabidiol (CBD) has been used to treat medically refractory seizures in SWS due to its anti-seizure, anti-inflammatory, and neuroprotective properties. Pilot research suggests that CBD improves cognitive impairment, emotional regulation, and quality of life in patients with SWS. Recent preclinical studies also suggest overlapping molecular pathways in SWS and in CBD, suggesting that CBD may be uniquely effective for SWS brain involvement. This review aims to summarize early data on CBD’s efficacy for preventing and treating epilepsy and neuro-cognitive impairments in patients with SWS, likely molecular pathways impacted, and provide insights for future translational research to improve clinical treatment for patients with SWS.

Correction of Severe Pterygium Colli with a Staged, Double, Posterior and Lateral Approach: A Case Report

AbstractPterygium colli is a rare congenital disorder characterized by excessive skin in the lateral and posterior neck, often associated with genetic syndromes such as Turner's syndrome or Klippel–Feil syndrome. Severe presentations present special challenges for surgeons since its diagnosis is not always evident and its treatment often results in important scaring. Surgical correction of the typical cases mostly involves a lateral approach, but in this “special” case, we used a double, posterior and lateral approach. A 15-month-old girl with prenatal diagnosis of a cystic lesion in the posterior neck presented with massive neck webbing at birth. Genetic studies ruled out chromosomal disorders and RASA 1 mutations. Surgical correction involved a modified posterior approach combined with a lateral approach 1 year later. The cervical tissue redundancy was successfully reduced achieving a good aesthetic outcome with very acceptable scars. At 1 year of follow-up, the patient continues with good neck appearance and mobility. The goal of surgical treatment of pterygium colli is achieving a harmonious neck contour with good function and minimal scarring while minimizing complications and sequelae. No consensus exists on the optimal approach for its correction, emphasizing the need for individualized treatment considering patient-specific characteristics, particularly in the severe cases.

Novel presentation of acalvaria with clavicular absence: A case report

Rationale: Acalvaria is an exceptionally rare congenital disorder marked by the absence of flat bones of the cranial vault, dura mater, and associated muscles, while the facial bones and base of the skull remain intact. Typically, the central nervous system is unaffected. Due to their extreme rarity, reported cases in the literature are infrequent. This condition often results in fatalities, as newborns with this anomaly generally have short life expectancies. However, there are a few documented cases of prolonged survival. Patient concerns: A 1-day-old full-term Palestinian male born to first-cousin parents at 37 + 6 weeks gestational age presented with an excessively soft skull without scalp abnormalities. The mother experienced polyhydramnios during the last 7 weeks of pregnancy. Diagnoses: Head ultrasound and X-rays confirmed the absence of skull vault bones and clavicles with normal facial bones. A CT scan showed well-formed brain structures and foci of hemorrhage in the left frontal lobe. Interventions: Supportive care was the primary management approach. The patient received comprehensive care in the neonatal intensive care unit, with a focus on stabilization and monitoring. Outcome: After 3 weeks in the neonatal intensive care unit, the patient showed normal feeding and function, but the prognosis remained poor. The patient’s family was informed about the poor prognosis. Lessons: This case reveals a unique combination of acalvaria and absent clavicles. Early antenatal diagnosis is essential but was delayed here. More research is needed to understand and improve the diagnosis of these conditions.

Congenital Colorectal Conditions: Caregiver Perspectives of Their Experience in the Neonatal Intensive Care Unit.

This study aimed to examine the experiences of children with colorectal conditions who spent time in the Neonatal Intensive Care Unit (NICU) and their caregivers. In March 2024, a 36-question survey was sent to the Colorectal Support Network Facebook community, to gather information from caregivers of children who have a congenital colorectal diagnosis and spent time in the NICU. Fifty-two families completed the survey. Most patients were diagnosed after birth (89.47%). Approximately half of respondents stayed in the NICU for one to two weeks (50.88%), lived less than 60 minutes away from the hospital (54.91%), and felt somewhat uncomfortable (28.07%) or very uncomfortable (21.05%) caring for their child's medical needs after discharge. Also 49.12% of caregivers were informed of their child's future bowel control prognosis. When asked for suggestions to improve care in the NICU, common themes included the importance of having colorectal congenital anomalies addressed by colorectal surgeons, and the need for families to be informed about support groups. Counseling families in the NICU with congenital colorectal conditions can be improved by providing additional information and support for families prior to discharge, informing them about their child's prognosis for bowel control, and connecting them with other families.

Abbe Flap for Upper Lip Reconstruction.

Lips are complex structures that are part of the facial esthetics. Their integrity may be affected by congenital diseases, trauma, burns, and cancers, among other pathologies. The reconstruction of the upper lip subunit can be a challenge for the surgeon. The purpose of this paper is to review the Abbe flap technique with the help of tips from the primary surgeon (surgical tips) and present a series of cases as experience in upper lip reconstruction. A retrospective study at Chilean centers Fundación Gantz and Clínica Alemana de Santiago from 2003 to 2023. The surgical technique was described, and different variables were assessed. The Strasser scale was used as an objective method for assessing the results. Sixteen surgery patients, 50% female and 50% male. Fourteen patients (87.5%) with cleft lip and palate. In total, 85.71% of the total number of patients with follow-up had a good score of 1 to 4 on the Strasser scale. There were no mediocre results comparable to results described in other series. There were no complications relating to the technique. The Abbe flap technique continues to be an excellent option in upper lip reconstruction, especially in patients with a condition of the middle third of the lip. Knowledge of the anatomy, the surgical technique, the function of the lip, and facial esthetics leads to acceptable results for the patient and their environment with this technique.

Walking Ability After Microsurgical Reconstruction of Pediatric Popliteal Pterygium Syndrome—A Case Report

Background: Popliteal pterygium syndrome (PPS) is a rare congenital disorder characterized by orofacial, cutaneous, musculoskeletal, and genital anomalies. Surgical interventions are necessary to address the severe knee flexion contracture and equinovarus deformity, but there are no established treatment guidelines. Methods: We present the case of a one-year-old patient with PPS and discuss the challenges in managing the knee deformity. The surgical option chosen for the unilateral knee contracture of 80° consisted of skin management by a large Z-plasty, lengthening of popliteal vessels by grafts, lengthening of the tibial and peroneal nerves by autografts and allografts, capsular releases, and tendon releases to improve mobility and preserve foot sensibility. Results: With a three-year follow-up, the surgical interventions resulted in proper ability to walk freely. Wearing of a foot orthesis was necessary to balance the leg length differences and support the midfoot deformity. Furthermore, sensation of the foot could be restored in terms of touch sensibility and perfusion was always stable during growth. Discussion: The treatment of PPS requires a multidisciplinary approach, considering the rarity and complexity of the syndrome. Surgical interventions aim to release contractures, correct deformities, and preserve foot sensibility. Each treatment option has its advantages and disadvantages, highlighting the need for individualized care.

Zebrafish as a Model Organism for Congenital Hydrocephalus: Characteristics and Insights.

Hydrocephalus is a cerebrospinal fluid-related disease that usually manifests as abnormal dilation of the ventricles, with a triad of clinical findings including walking difficulty, reduced attention span, and urinary frequency or incontinence. The onset of congenital hydrocephalus is closely related to mutations in genes that regulate brain development. Currently, our understanding of the mechanisms of congenital hydrocephalus remains limited, and the prognosis of existing treatments is unsatisfactory. Additionally, there are no suitable or dedicated model organisms for congenital hydrocephalus. Therefore, it is significant to determine the mechanism and develop special animal models of congenital hydrocephalus. Recently, zebrafish have emerged as a popular model organism in many fields, including developmental biology, genetics, and toxicology. Its genome shares high similarity with that of humans, and it has fast and low-cost reproduction. These advantages make it suitable for studying the pathogenesis and therapeutic approaches for various diseases, specifically congenital diseases. This study explored the possibility of using zebrafish as a model organism for congenital hydrocephalus. This review describes the characteristics of zebrafish and discusses specific congenital hydrocephalus models. The advantages and limitations of using zebrafish for hydrocephalus research are highlighted, and insights for further model development are provided.