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

Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review.

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.

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.

The e ffec t of the nose fo rm o n lin ear and a ngular lip po sitio n in C l as s II patients.

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

Facial-palate correlation in unilateral cleft lip and palate: A data-driven 3D analysis.

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

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.

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

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.

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound: A Retrospective Study.

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

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

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.

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.

Morphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.

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.

Stereophotogrammetry as a Precise and Accurate Method for Facial Analysis in Patients With Cleft Lip and Palate Undergoing Orthognathic Surgery.

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

A Silent Obstruction: Ureteropelvic Junction Syndrome Presenting As Resistant Hypertension in an Adult.

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

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.

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

Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions.

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

Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.

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.

Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.

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].

[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.

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

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.

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

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.

Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy.

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

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

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].

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

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.

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?

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.

Novel variant in FGFR2 in a family with anterior segment anomalies.

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.

A Rare Triad of Congenital Facial, Abducens, and Hypoglossal Nerve Palsies: A Case Report.

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

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.

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

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

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.

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

3-M syndrome: evolution of the phenotype over time.

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

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

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.

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

Parents' Experiences and Needs in Home Nutritional Management of Children With Short Bowel Syndrome: A Qualitative Study.

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.

Gene Editing in Cardiac Disease: A Review of the Literature.

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

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.

CDCA7 facilitates MET1-mediated CG DNA methylation maintenance in centromeric heterochromatin via linker histone H1.

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.

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

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.

Parry-Romberg Syndrome With Localized Scleroderma: A Report of Two Pediatric Cases From Oman.

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.

Prevalence of the Huschke Foramen in Colombian Population: An Important Anatomic Alteration for the Planning of TMJ Arthroscopy.

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.

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.

When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.

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.

Craniofacial surgery needs in the Moebius syndrome population.

Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.

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.

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

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.

3M syndrome with novel CUL7 variants in a Chinese patient: a case report.

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.

Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome.

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

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.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

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

Mandibular Symphysis Bone for Alveolar Grafting: 3D Outcomes and Donor Site Regeneration in Patients With Unilateral Cleft Lip and Alveolus.

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

A Unique Case of Beard-Distributed Infantile Hemangioma With Subglottic Extension and Evaluation for PHACE Syndrome.

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.

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.

Anesthetic Management During Post-tonsillectomy Hemorrhage in a Child With Noonan Syndrome: A Case Report.

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

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

Epidemiology of dento-skeletal dysmorphoses in children treated for craniosynostosis in infancy.