Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.

Scoliosis in Escobar Syndrome: Retrospective Review of Surgical Outcomes, Risks, and Radiographic Patterns.

Distinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption.

Novel heterozygous mutation in MYH3 causes contractures, pterygia, and spondylocarpostarsal fusion syndrome 1: A case report.

Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.

The evolving genetic landscape of neuromuscular fetal akinesias.

Van der Woude syndrome and amniotic band sequence: A clue to a common genetic etiology? A case report.

Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience.

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

Popliteal Pterygium Syndrome: A Case Report Highlighting Challenges and Surgical Interventions in a Resource-limited Setting.

Pterygium Colli: A Narrative Review with a Comparative Study of Lateral Approach Techniques.

Bruck syndrome in pregnancy.

Progressive conjunctival invasion of cornea in a child with Warburg-Cinotti Syndrome: a case report.

Multiple Pterygium Syndrome (Escobar Syndrome): A Rare Form of Prenatal Myasthenia Presenting With Arthrogryposis Multiplex Congenita.

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.

Congenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome.

Comparative analysis of surgical treatment modalities for a popliteal pterygium: a meta-analysis.

Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.

Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).

Evaluation of lymphotoxin-alpha in pterygium and diagnostic value in active and inactive pterygium states.

The unique properties of tear film breakup process in patients with nasal unilateral pterygium.

Sex Differences and Discordance Between Symptoms and Signs of Dry Eye Disease.

Lethal multiple pterygium syndrome in a newborn, a case report.

Modified Five-Flap Z-plasty for Surgical Correction of Webbed Neck Deformity in Turner Syndrome.

[Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene].

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.

Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia.

Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.

FREM2-related Fraser syndrome with popliteal pterygium and structural central nervous system anomalies.

Correlation between pterygium and dry eye: diagnostics and risk factors not considered.

Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report.

Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder.

A new surgical approach to treatment of bilateral syngnathia in a patient with popliteal pterygium-syndrome.

Cases of toxic anterior segment syndrome after primary pterygium surgery.

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.

Tear film and ocular surface neuropeptides: Characteristics, synthesis, signaling and implications for ocular surface and systemic diseases.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Surgical Correction of Popliteal Pterygium with Serial Splinting: A Case Report and Review of Literature.

Hydroxychloroquine treatment on SARS-CoV-2 receptor ACE2, TMPRSS2 and NRP1 expression in human primary pterygium and conjunctival cells.

Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome.

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.

Correlation between the presumed pterygium with dry eye and with systemic and ocular risk factors.

Popliteal Pterygium With Van Der Woude Syndrome.

Cardiac anomalies associated with Escobar syndrome: A case report and a review of the literature.

Poland syndrome: neonatal presentation with axillary pterygium.

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.

Bartsocas-Papas syndrome: The first case report of severe autosomal recessive form from Indonesia.

Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms.

Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).

Popliteal pterygium syndrome and surgical approach in a preterm neonate.

The Orthopaedic Management of Human Disorganization Syndrome.

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.

Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example.

A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.

NF1 microdeletion syndrome: case report of two new patients.

The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.

Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature.

Lethal multiple pterygium syndrome.

Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies.

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

Management of severe congenital flexion deformity of the knee using Ilizarov method.

Escobar Syndrome-An Multidisciplinary Approach for an Excellent Outcome With 3 Years of Follow-Up.

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Growth-Friendly Spine Surgery in Escobar Syndrome.

Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.

Modified Posterolateral Approach for Pterygium Colli.

Dry-Eye Disease in Recurrent Pterygium.

Oskar Kobyliński (1856-1926) and the first description of Noonan syndrome in the medical literature.

Van der Woude and Popliteal Pterygium Syndromes.

IRF6 and AP2A Interaction Regulates Epidermal Development.

Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome.

Conjunctival changes in different clinical variants of early pseudoexfoliation.

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

Periderm: Life-cycle and function during orofacial and epidermal development.

Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses.

IRF6 and SPRY4 Signaling Interact in Periderm Development.

Anaesthetic management of a patient with multiple pterygium syndrome for elective caesarean section.

IRF6 expression in basal epithelium partially rescues Irf6 knockout mice.

Popliteal Pterygium Syndrome With Syngnathia.

[Mutation analysis for a Chinese family affected with Escobar syndrome by whole exome sequencing].

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.

[Surgical management of spinal deformity in a patient with Escobar syndrome: review of the literature].

Morphological and ultrasonographic study of fetuses with cervical hygroma. A cases series.

Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect.

Continuous fetal head flexion as a marker for prenatal diagnosis of lethal multiple pterygium syndrome: a case report.

Shared molecular networks in orofacial and neural tube development.

Escobar (multiple pterygium) syndrome: Multidisciplinary approach to a very rare syndrome.

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.

Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis.

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child.

Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome.

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.

Toward an orofacial gene regulatory network.

Intrapartum diagnostic of Roberts syndrome - case presentation.

Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.

Symptomatic Accessory Medial Meniscus Associated With Popliteal Pterygium Syndrome.

Diagnosis using the nail bed and hyponychium.

Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.