Inferior wall ST-elevation myocardial infarction in a patient with a single coronary artery from the right coronary cusp trifurcating into the left anterior descending, left circumflex, and right coronary arteries: a rare coronary anomaly, case report.

Pelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.

Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review.

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.

KCNH2 Duplication Variant (c.2164_2181dup) Associated with Sudden Cardiac Death in a Family with Congenital Long QT Syndrome.

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome.

OTUD5-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature.

Addressing complicated vesicovaginal fistula post-intercourse in MRKH: the critical imperative for comprehensive sex education and awareness.

Clenched fist syndrome: unveiling a motor manifestation of schizophrenia-a case report.

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.

Congenital Upper Extremity Anomalies Misdiagnosed as Ulnar Longitudinal Deficiency.

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.

Congenital Ocular Motor Apraxia as the First Sign of Joubert Syndrome: A Case Report.

A systematic review and meta-analysis of Zika virus epidemiology.

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

Organ-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.

Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.

Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.

A Presumed Dysphagia Aortica in a Siamese Cat.

Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

Case Report Series: Genetic and clinical characterization of long QT syndrome in admixed Ecuadorian patients and its implications for sudden cardiac death risk.

Jacob's Syndrome and Hearing Loss: A Case Study.

Newborn With Abnormal ECG and Family History of Sudden Cardiac Arrest.

Delayed diagnosis of Waardenburg syndrome type 1 in a Syrian adult: Challenges and lessons from resource-limited settings, a case report and literature review.

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.

Pregnancy-Associated Thrombotic Thrombocytopenic Purpura: Diagnostic Pitfalls, Therapeutic Strategies, and Emerging Paradigms.

Preventing Postpericardiotomy Syndrome: Current Evidence and Future Directions.

A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant.

Congenital Amegakaryocytic Thrombocytopenia Presenting With Features of Immune Thrombocytopenia: A Case Report.

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder.

Challenges in managing pediatric heart failure, especially in resource-limited settings.

Prioritizing topics for a clinical practice guideline on SATB2-associated syndrome: methodological rigor vs clinical usability.

Propafenone Overdose Presenting With Brugada Phenocopy, QRS Widening, and Ventricular Fibrillation.

A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations.

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating KMT2A Variant: Clinical and Genetic Correlations.

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.

Fetal Rapid Eye Movement Sleep Dysfunction as a Potential Early Indicator for NALCN-Related CLIFAHDD Syndrome: A Case Report.

A case of Kabuki syndrome with congenital pulmonary airway malformation.

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.

Complete bilateral second branchial cleft fistula in an adolescent: a rare case report with literature review.

ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients.

Rapid Eye Movement (REM) Sleep Behaviour Disorder in Moebius Syndrome: A Rare Pediatric Case.

MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.

A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.

Neuropsychological findings in a young adult with congenital bilateral perisylvian syndrome: A case report.

[Analysis of a child with You-Hoover-Fong syndrome due to compound heterozygous variants of the TELO2 gene and a literature review].

[Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene].

[Van Wyk-Grombach syndrome as a result of late diagnosis of autoimmune thyroiditis (ait) in a patient with chromosome 22 deletion syndrome. Description of the clinical case and a brief review of the literature].

Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature.

A porcine congenital deafness model with unconditional knockout of GJB2 generated by CRISPR/Cas9 genomic editing.

Acute Coronary Syndromes in Premenopausal Women: A Scientific Statement From the American Heart Association.

Total Nasal Reconstruction Redefined: Classic Craft Meets Microsurgical Innovation.

A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.

The Role of Pyridoxine Treatment for Seizures in Patients with PGAP3-Congenital Disorders of Glycosylation.

The impact of maternal flavivirus infections on fetal neurological outcomes: a scoping review.

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.

Influence of Technical Performance Score on Outcomes After Tetralogy of Fallot Repair in a Low-Middle-Income Country.

Beyond Aqueductal Stenosis: A Case of an Atypical Teratoid/Rhabdoid Tumor Presenting With Neonatal Hydrocephalus.

Population developmental hazard of over-the-counter NSAIDs.

Prevention of Respiratory Infections in Children with Congenital Heart Disease: Current Evidence and Clinical Strategies.

Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss.

Treacher-Collins Syndrome With Anorectal Malformation: A Rarity and a Challenge for the Surgical Team.

Platypnea-Orthodeoxia Syndrome Revealing an Undiagnosed Patent Foramen Ovale: A Case Report.

Lutembacher's syndrome presenting in the third trimester: a multidisciplinary challenge in a low-resource setting.

Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.

Prenatal Diagnosis of Radio-Tartaglia Syndrome Caused by a Loss-of-Function Variant in SPEN in a Chinese Family.

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Multisystem Comorbidities Associated With Orofacial Dysfunction in the Appalachian Region: A Retrospective Analysis.

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.

Annular Pancreas Presenting with Intermittent Duodenal Obstruction in Early Childhood: A Diagnostic Masquerade.

Intellectual Developmental Disorder of Autosomal Dominant 61 Caused by a MED13 Variant Presenting With Congenital Unilateral Sensorineural Hearing Loss: A Case Report.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Long-term benefit of GPi-DBS in YY1-related dystonia: a case report.

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.

Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients.

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.

Management of hypoparathyroidism during pregnancy following late maternal diagnosis of DiGeorge syndrome: a case report.

Whole exome sequencing facilitates early neurodevelopmental diagnosis in an outpatient clinic.

[Distal 18q deletion syndrome (18q-) in a pediatric patient].

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.

Pregabalin in Pregnancy: Major Congenital Malformations, Other Birth Outcomes, and Neurodevelopmental Outcomes.

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

Williams-Campbell syndrome: a rare case of congenital bronchiectasis: a case report.

Bilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report.

Delayed presentation of Type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a low-income setting: a case report.

The Age of Definitive Fusion Surgery for Early Onset Scoliosis Has Remained Constant Over the Past 2 Decades.

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

Case report and literature review of neurodevelopmental syndrome linked to DOT1L variants.

Renal Autotransplantation After Yang-Monti Neoureter Procedure: Surgical Case Report and Brief Literature Review.

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

Beyond the Diagnosis: A Journey of an 8-Year-Old Girl with Patau Syndrome: Case Report.

Delayed Dental Development in Children With Non-Syndromic Hypodontia: A Cross-Sectional Study Using a Machine Learning Approach to Dental Age Estimation.

KDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.

Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.

[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].

Novel homozygous pathogenic AP1B1 variant in autosomal recessive keratitis-ichthyosis-deafness syndrome treated with acitretin.

Case Report: The case of atypical OAPS complicated by positive anti-SSA and anti-SSB antibodies.

A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report.

Challenges in Managing a Congenital Strangulated Bochdalek Hernia in an Older Female Patient in a Low-Income Country: A Case Report.

Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report.

Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome.

A certain set of signs that could be compatible with Kabuki syndrome: a case report of an Iranian girl and review of literature.

Dysmenorrhoea presentation in Herlyn-Werner-Wunderlich syndrome: A case study.

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report.

P10 Treatment-refractory psoriasiform dermatitis resulting from a rare genetic alteration in MSMO1 with marked improvement with combined cholesterol and statin use.

Case report: Diagnosis of a double aortic arch in the primary care setting.

Prenatal exposure to acrylamide and metabolic health at 20 years of age A biomarker-based Danish cohort study.

Dandy Walker malformation with occipital encephalocele - personal series and updated literature review.

Association of antenatal dexamethasone administration timing with outcomes in preterm infants in a low- and middle-income country.

Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.

Heterogeneity of Orodental Features in a Family with Noonan Syndrome.

Type 3 Sturge-Weber Syndrome Presenting With Concurrent Epilepsy and Migraine.

Sternotomy healing by secondary intention in a complex single ventricle patient after stage 1 palliation.

Webb-Dattani syndrome in a 17-year-old girl.

Diagnosis of a Neonate With Long QT Syndrome and Severe Complications Delayed due to an Unrecognized Familial History.

Genetic Etiology of Infantile Spasms in Peruvian Children: A Multicenter Study.

STIM1 Reduction Prevents Tubular Aggregate Formation and Compromises Muscle Performance in Ageing Mice.

PIGA variants are associated with focal epilepsy with favorable outcome and the sub-molecular effect.

Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant.

SYT2-Related Disease: A Case-Based Review.

Pulmonary comorbidities and response to surfactant in late preterm infants: a multicenter cohort study.

Prenatal Exposure to Zika Virus and Risk of Epilepsy-Related Hospitalization During Early Childhood.

Volume Loading May Compromise Left Ventricular Filling in Patients with a Borderline Hypoplastic Left Ventricle.

Co-Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha-Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p13.3 and Partial Trisomy 16q22.1-q24.3.

Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.

Clinical approach to the male with delayed puberty.

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome Encompassing NSD1 and SLC34A1 Genes.

A Novel STAG2 Frameshift Variant in Mullegama-Klein-Martinez Syndrome with Complex Conotruncal Heart Defect.

From Congenital Torticollis to Leigh Syndrome: A Case Report of Diagnostic Evolution in an Infant.

From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.

Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.

Long QT syndrome type 1: clinical and functional characterization of KCNQ1 variant c.1111G > C.

Incidence and multisystem preadolescent complications of Turner syndrome: a nationwide study.

Macular and optic nerve hypoplasia in chromosome 2p partial trisomy.

Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.

Spontaneous Hemarthrosis and Compartment Syndrome in an Elderly Female With Acquired Hemophilia A: A Case Report.

Jacobsen Syndrome With White Matter Abnormalities: A Case Report and MRI Follow-Up.

Clinical variation in Lowe syndrome: what and how?

The Skin Tells the Story: Early Signs of Inborn Errors of Immunity.

Approach to prolonged QT interval in paediatric and neonatal patients.

Case Report: Coexistence of Giant Congenital Melanocytic Nevus and Holocord Spinal Nerve Sheath Tumor.

A Morphometric Analysis of the Ear, Nose, and 2D:4D Digit Ratio in Individuals With Down Syndrome.

KCNH2-L693P Causes Long QT Syndrome Type 2 Through hERG Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance.

A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.

The herculean illusion: congenital hypothyroidism masquerading as muscular dystrophy.

De novo truncating variant in the FBRSL1 gene caused neurodevelopmental disorders, epilepsy, congenital heart disease, and facial dysmorphism.

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review.

Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on PTPN11 c.922A>G Variant and Phenotypic Spectrum.

Congenital brucellosis in a newborn: A rare case report and clinical insights.

Clinical and Genetic Insights into Congenital Generalized Lipodystrophy Type 4: A Case Report.

A TRIM8 Variant in a Child: Neuro-Renal Syndrome Causing Features Suggestive of Medullary Sponge Kidney.

Prenatal diagnosis of a de novo pathogenic HNRNPK variant in a Chinese fetus with abnormal ultrasound soft markers: a case report.

Early surgical intervention for neonatal syndactyly in amniotic band sequence.

Are NONO variants linked to congenital heart disease? Patient reports and review.

Amniotic membrane placement without endotamponade for optic nerve coloboma with extensive serous retinal detachment in papillorenal syndrome: A case report.

Reversal of Congenital Hypogonadotropic Hypogonadism.

Novel Airway Challenges in DEGCAGS Syndrome: Managing Infant Laryngeal Hamartomas.

Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.

Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement.

Diagnostic Utility of Chromosomal Microarray Analysis in a Turkish Pediatric Cohort: Insights from 1,022 Patients with Neurodevelopmental Disorders and Congenital Anomalies.

A novel frameshift variant in the MED13 gene causing intellectual developmental disorder-61 in a Chinese family.

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?

Mayer-Rokitansky-Küster-Hauser Syndrome: Where Does Gynaecological Pathology End and Renal Disease Begin? The Value of a Comprehensive View. Two Case Reports with Adult Onset Kidney Disease and A Review of the Literature.

Case Report: Hydroxychloroquine in an infant with NKX2-1-associated interstitial lung disease.

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics.

Door-to-Balloon Time Delay in Complex Primary Angioplasty: A Case of Anomalous Origin of the Right Coronary Artery From the Pulmonary Artery (ARCAPA).

Multidisciplinary management of nasal and lacrimal drainage disorders in ectrodactyly-ectodermal dysplasia-clefting syndrome.

Barth syndrome: Natural history in infants and young children.

Improving prognostication for individuals with FOXP1 syndrome: Parent-reported practical and social skills in 52 individuals.

Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification.

Comprehensive prenatal and postnatal analysis of 22q11.2 microdeletion syndrome: a single-center study.

RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position.

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.

Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome.

A novel ASXL3 gene variant in a Chinese Boy causing Bainbridge.

Congenital Diaphragmatic Hernia and Congenital Nephrotic Syndrome in a Low-Birth-Weight Infant: A Case Report.

7p21.1 Microdeletion Encompassing the ACTB Gene in a Japanese Child: Longitudinal Clinical and Neuroimaging Findings.

Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.

ITCH Deficiency Causing Immunodeficiency and Immune Dysregulation.

[Clinical features and variant spectrum of FGFR3-related disorders].

Clinical and genetic analysis of Majeed syndrome caused by LPIN2 complex heterozygous mutation and literature review.

Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.

Anesthetic Management of Progressive Deformity of Tracheal Cartilaginous Sleeve in a Pediatric Patient With Beare-Stevenson Syndrome: A Case Report.

A rare anomaly of the Mullerian system: OHVIRA syndrome. Comprehensive literature review and report of seven cases.

FGFR1-related congenital hypogonadotropic hypogonadism: a case report and literature review.