ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

Aortic dissection during the perinatal period in women with Marfan-related disorders: a retrospective cohort study using the Japanese Diagnosis Procedure Combination database.

The pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.

Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.

Three Yemeni Siblings With Johanson-Blizzard Syndrome: A Case Report and Literature Review.

Clinical and molecular findings in Cornelia de Lange syndrome. Case series.

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

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.

Pre-operative High-Resolution CT and MRI Evaluation in Pediatric Cochlear Implant Candidates: Correlation With Surgical Findings and Outcomes.

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

Ortho-surgical management of Arhinia syndrome: A case report.

Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program.

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays.

Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.

Tuberous sclerosis complex.

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

[Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene].

[Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant].

[Application of SNP linkage-based PGT-M to block the transmission of EFNB1 deletion in a Chinese family affected with Cranio-facial-nasal syndrome].

Case Report: Safety analysis of blinatumomab consolidation therapy in two cases of acute B-cell lymphoblastic leukemia in complete remission complicated with immune effector cell-associated neurotoxicity syndrome.

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Unilateral port wine stain on the face: a case report and review.

Early Childhood-Onset Prosopometamorphopsia Following Respiratory Tract Infection With Serological Evidence of Mycoplasma pneumoniae Exposure: A Pediatric Case Report.

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

A Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M Syndrome.

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

A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

Intravenous Haloperidol, Agitation, and the QTc: Misconceptions and Heuristics.

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.

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

The high-risk minority: undetected preterm SGA disproportionately contributes to adverse outcomes in a Chinese cohort.

Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report.

Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.

A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.

Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.

Tongue strength and endurance in relation to oral cavity morphology among children with Down syndrome in the permanent dentition period.

Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.

Morphometric Findings in Adolescents with Robin Sequence: A Photographic and Cephalometric Study of the Face and Mandible.

Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.

Neuroinflammation as a driver of Down syndrome-associated Alzheimer's disease.

Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report.

Stridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.

A pediatric case of idiopathic harlequin syndrome.

Fragile foal syndrome: manifestations, heterozygous advantage and the future of breeding policies.

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.

A cross-sectional study into the prevalence and conformational risk factors of BOAS across fourteen brachycephalic dog breeds.

Expanding the Clinical Spectrum of VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome: The First Report of Histologically Confirmed Neutrophilic Colitis With Rare Muscular and Pancreatic Involvement.

A case of Kabuki syndrome with congenital pulmonary airway malformation.

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

A novel NMD-escaping STAG2 variant associated with syndromic neurodevelopmental delay, growth failure, and distinctive dysmorphism: expanding the phenotype in male patients and literature review.

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.

Notch signaling in the embryonic ectoderm promotes periderm cell fate and represses mineralization of vibrissa hair follicles.

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

Successful Treatment of Multifocal Demyelinating Sensory-Motor Neuropathy (Lewis-Sumner Syndrome) With Rituximab: A Case Report.

Genetic diagnosis of macrotia in PIK3CA-Related Overgrowth Spectrum (PROS) and long-term outcome of otoplasty: a case report and literature review.

Epigenetic disruption meets immune deficiency: a case report of ICF syndrome linked to DNMT3B mutation.

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

Clinical hypnosis for velo-cardio-facial syndrome: A case series and therapeutic framework.

[Culler-Jones syndrome polymorphism].

[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.

Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.

[Expert consensus on diagnosis and treatment of adult primary ciliary dyskinesia (2025 edition)].

The impact of age on clinical features and fertility outcomes in patients with polycystic ovary syndrome: a secondary analysis based on the PCOSAct trial.

Clinical characterization and analysis of the POLE gene in three Chinese patients with IMAGEI syndrome.

Case Report: Ramsay Hunt syndrome with simultaneous bilateral vestibular dysfunction as the initial manifestation in a patient with a history of breast cancer.

A Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation.

Case Report: Postmenopausal hyperandrogenism misled by adrenal incidentaloma: a rare case of androgen-secreting ovarian adult granulosa cell tumor and clinical implications.

Digital Technologies in Diagnosing Solitary Median Maxillary Central Incisor Syndrome.

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

Prenatal Diagnosis of a Feingold Syndrome Pregnancy Complicated with Severe Preeclampsia: A Report of a Challenging Case.

Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.

Capgras Syndrome Triggered by Marital Separation: A Rare Case of Trauma-Induced Delusional Misidentification.

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

[Neonatal-onset multisystem inflammatory disease in a neonate caused by a de novoNLRP3 variant].

Long-term morphometric and functional outcomes of frontofacial advancement in syndromic craniosynostosis.

[Wolff-Parkinson-White syndrome : Comparison of different algorithms].

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

Unusual association: Sturge-Weber syndrome with Klippel-Trenaunay syndrome.

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

Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report.

Parental knowledge and access barriers in the management of cleft lip and/or palate: A cross-sectional study from Saudi Arabia.

Sirenomelia With Complete Caudal Regression in a Preterm Infant Born to a Mother With Poorly Controlled Type 1 Diabetes Mellitus: A Case Report on Clinical Presentation and Perinatal Management Challenges.

Suboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation.

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

Diagnostic yield of genetic testing in children with short stature: a systematic review.

Proximal Junctional Kyphosis Following Spinal Thoracic Deformity Correction in a Patient with Kabuki Syndrome: A Case Report.

The role of Rho GTPases in facial morphogenesis.

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

Assuming the right approach in cerebrofacial arteriovenous metameric syndrome: a case report.

Cornelia de Lange syndrome: What should a dermatologist know?

Accidental finding of Sturge-Weber syndrome presented to the emergency department with persistent seizures: an unusual case report from Somalia.

The Suggestive Association Between the NOG rs227731 Polymorphism and Non-Syndromic Cleft Lip With or Without Palate Subtypes in a Japanese Cohort.

Paediatric-Onset Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum: Is It a Different Disease?

Finding a new rhythm: child health-related quality of life, parent psychological distress, and unmet needs among families of children with cardiac channelopathies.

Diabetic Cardiovascular Complications in Women and Young Adults.

Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.

Currarino syndrome associated with an isolated 7q terminal deletion in Korea: a case report.

Neurological symptoms and physical exam findings 6-11 months post-COVID-19: a cohort study.

Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.

Freeman-Sheldon Syndrome: A Rare Case Report with Dental Perspective.

Sirolimus for Recurrent Chylothorax and Edema in an Infant with Noonan Syndrome after Resolved Hydrops Fetalis: A Case Report.

Joint hypermobility as a manifestation of neonatal Sotos syndrome.

Glycogen storage disorder-mimicking presentation of X-linked lymphoproliferative syndrome (XLP).

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

Evaluation of mandibular morphology in untreated growing patients with hemifacial Microsomia: a 3D computed tomography study.

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.

Adrenal Cushing's Syndrome in Pregnancy Complicated by Fetal Growth Restriction Following Retroperitoneoscopic Adrenalectomy.

Pycnodysostosis and obstructive sleep apnea: Observations on 10 cases.

Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels.

An Innovative Formula for Keratosis Pilaris Treatment-A Randomized Controlled Study Based on the "Exfoliation-Dissolution-Repair" Concept.

[MINOCA revealing an anomalous origin of right coronary artery and a pheochromocytoma : A case report with literature review].

Ascher syndrome unmasked: a rare cause of acquired blepharochalasis in a young female.

A Case of Neonatal Hypomelanosis of Ito With Early-Onset Refractory Seizures and Cortical Malformations.

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

An unusual case of Kippel-Trenaunay syndrome complicated with intrahepatic cholestasis of pregnancy and disseminated intravascular coagulation.

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

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

Myeloperoxidase aggravates thoracic aortic aneurysm formation in Marfan disease.

A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.

The VASCERN-VASCA diagnostic and management pathways for kaposiform hemangioendothelioma.

Congenital palatal fistula associated with submucous cleft palate: Surgical outcomes and insights from a case series of 27 patients.

Children and adolescents with DiGeorge syndrome are short in early infancy but develop excess weight in adolescence: a retrospective study.

Heterogeneity of Orodental Features in a Family with Noonan Syndrome.

Filippi syndrome-associated CKAP2L modulates microtubule dynamics essential for mitosis and ciliary length regulation.

Jordan syndrome due to PPP2R5D gene mutation: a report of two pediatric cases and literature review.

Kissing Cochlea: An Extreme Inner Ear Malformation, Novel Surgical Approach via Cystic Vestibule.

Anesthetic Management of a Patient With Myhre Syndrome.

Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.

"Case Report: Klinefelter Syndrome Presenting With Dystonic Tremor: Expanding the Phenotypic Spectrum and Therapeutic Option".

Not Just a Birthmark: A Case Report of a Subtle Port-Wine Stain Heralding Sturge-Weber Syndrome.

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report.

Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome.

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

Managing acute myeloid leukemia in the context of sickle cell anemia and suspected Fanconi anemia in Tanzania: a case report.

Heart failure caused by Opitz syndrome: a case report and literature review.

Longitudinal Neuroimaging of a Pediatric Patient With Sturge-Weber Syndrome: From Birth to Adolescence.

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

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.

Smartphone and AI Workflow for 3D Printed Plate for Presurgical Therapy in Cleft Lip and Palate: Retrospective Evaluation of Outcomes.

3M syndrome in Saudi Arabia: a case series study and literature review.

Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.

A Case Report: Identification of a Pathogenic Microdeletion at Chromosome 21q21.3q22.13 Using Whole-Exome Sequencing and CNV Analysis in a Moroccan Child with Global Developmental Delay.

Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.

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

Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variant at splicing site and exon 1 deletion.

Palatal subunits analysis in unilateral cleft lip and palate compared to controls: A comparative cohort study.

Expanding the phenotype associated with biallelic SCNM1 variants.

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.

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

Temporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model.

Oculomotor Abnormalities and Nystagmus in Brainstem Disease: A Mini Review.

Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency.

The Diagnostic Performance of Nuchal Translucency Alone as a Screening Test for Down Syndrome: A Systematic Review and Meta-analysis.

A rare case report of Sturge-Weber syndrome type 2 variant on Roach scale.

Anesthetic Challenges of Caring for an Adult With Moebius Syndrome: A Case Report.

Craniofacial surgery needs in the Moebius syndrome population.

Altered motor coordination, vocal communication, and cerebellar circuit connectivity in mice carrying a near-complete human chromosome 21.

Clinical and Molecular Genetic Study of an Alagille Syndrome Type 1 Case.

A narrative review of the diabetic ketoacidosis and hyperosmolar hyperglycemic state overlap syndrome.

Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.

Bilateral Palatal Synechiae With Cleft Palate: A Rare Entity.

From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome.

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome.

Association Between Metabolic Syndrome, Obesity, and Cognitive Performances in Individuals With Bipolar Disorders: Cross-Sectional and Longitudinal Analyses in the FACE-BD Cohort.

One-stage versus two-stage surgical correction of blepharophimosis-ptosis-epicanthus inversus syndrome: a retrospective comparative study.

Association between parent-reported level of physical activity and mobility performance in children with Down syndrome: A cross-sectional study.

Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A).

Mechanics of blunting of actin-myosin interaction dynamics by the actinopathy-causing mutation E334Q in cytoskeletal γ-actin.

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

Collagen IV and laminin-1 as key macromolecules in ocular structure and pathology: A review.

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.

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

Cranial base and midfacial morphology in pfeiffer syndrome: A 3D quantitative analysis.

Lid wiper epitheliopathy and ocular surface dysfunction in benign essential blepharospasm before and after botulinum toxin-A injection.

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

Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant.

Craniofacial morphology of TcMAC21 and TcHSA21rat models of Down syndrome: An interspecific comparison.

Primary caregivers' perceptions of challenges in dental and orthodontic care for children with Down syndrome.

Dilated cardiomyopathy in Rubinstein-Taybi syndrome: A case report and mini-review of the literature.

Syndrome of the Month: An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature.

A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study.

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

First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders.

Novel KIF11 Variants with New Clinical Features: Expanding the Clinical Phenotype.

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

Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorphology.

Alagille syndrome due to a novel JAG1 mutation in a Chinese pediatric patient: A case report.

Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.

A Patient-Specific Computational Model for Neonates and Infants with Borderline Left Ventricles.

Ocular manifestations of trisomy 8 mosaicim: a rare case report.

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

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Optic nerve hypoplasia/dysplasia in Coffin-Siris syndrome: a case series.