First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum.

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

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

Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.

Concurrent inheritance of achromatopsia and MMAT syndrome in a pedigree: Genetic and clinical insights.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in FOXL2: diagnostic challenges with NGS.

Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation.

Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.

Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR Syndrome.

A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.

Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child - A Case Report.

Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.

Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.

Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome.

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child.

Analysis of orbitofacial anthropometry in children with pseudostrabismus.

Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly.

Neurofibromatosis-Noonan Syndrome With Primary Amenorrhoea: A Case Report.

Nasopalpebral Lipoma sine Coloboma Syndrome-First Case Report.

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

Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome.

A Rare Case of Achondroplasia With Bilateral Developmental Cataract.

The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome.

Having Multiple Renal Cysts in a Young Adult is not Always a Sign of Polycystic Kidney Disease.

Eye Abnormalities in Children with Fetal Alcohol Spectrum Disorders: A Systematic Review.

Clinical and genetic approach in the characterization of newborns with anorectal malformation.

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: A Simple Remedy for Challenging Cases.

Surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in treatment of Blepharophimosis syndrome.

Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.

Multimodal imaging of retinal findings in syndactyly, telecanthus, anogenital, and renal malformations (STAR) syndrome.

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.

A novel COLEC10 mutation in a child with 3MC syndrome.

Ocular manifestations in children with developmental delay at a tertiary center in South India.

Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.

Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.

An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.

Prenatal Diagnosis of Acromelic Frontonasal Dysostosis.

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.

A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review.

Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.

[Management of blepharophimosis, ptosis, epicanthus inversus syndrome at a referral center in Tunisia].

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.

A Very Rare Partial Trisomy Syndrome: De Novo Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features.

Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome.

Ophthalmological features and treatments in five cases of Waardenburg syndrome.

Axenfeld-Rieger Syndrome: Rare Case Presentation and Overview.

Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay.

Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.

Improvement of Periorbital Appearance in Apert Syndrome After Subcranial Le Fort III With Bipartition and Distraction.

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.

De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.

Oblique transnasal wiring canthopexy via Y-V epicanthoplasty for telecanthus correction in a patient with Waardenburg syndrome.

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.

A Novel Medial Canthal Reconstruction Technique in Children With Blepharophimosis Syndrome.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Diagnostic algorithm of Down syndrome by minor physical anomaly.

Nablus syndrome: Easy to diagnose yet difficult to solve.

A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.

Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Amniotic Band Syndrome: A Review of 2 Cases.

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.

STAR syndrome plus: The first description of a female patient with the lethal form.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.

Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.

Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome.

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon.

STAR syndrome: a further case and the first report of maternal mosaicism.

1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family.

Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.

[Anesthetic Management of an Infant with a Chromosome 14q Terminal Deletion Syndrome].

Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.

Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.

Development of Strabismus in Children Initially Diagnosed with Pseudostrabismus.

Ocular Findings in Children With 22q11.2 Deletion Syndrome.

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.

STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis.

Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.

[Clinical diagnose and significance of congenital sensorineural hearing loss combined with BPES].

Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.

Lily's Story: STAR Syndrome.

Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome.

A Modified One-Stage Early Correction of Blepharophimosis Syndrome Using Tutopatch Slings.

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

Syndromic lipomatosis of the head and neck: a review of the literature.

STAR syndrome is part of the differential diagnosis of females with anorectal malformations.

Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome).

A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome.