• A case of bilateral asymmetric polydactyly combined with unilateral foot polydactyly
• A Case of Postaxial Polydactyly Managed Under Local Anesthesia
• A case-control study characterizing polydactyly risk factors in Bogota and Cali, Colombia between 2002 and 2020
• A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
• A novel GLI3 frameshift mutation in a Chinese pedigree with polydactyly: A case report
• A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9)
• A novel missense variant located within the zinc finger domain of the GLI3 gene was identified in a Vietnamese pedigree with index finger polydactyly
• A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia
• A Rare Case of Unilateral Fetal Cataract and Coincidental Polydactyly in Congenital Toxoplasmosis
• A Rare Presentation of Laurence-Moon-Bardet-Biedl Syndrome: Atypical Retinitis Punctata Albescens and Non-alcoholic Fatty Liver Disease
• A Retrospective Review of Patient-reported Outcomes after Postaxial Polydactyly Ligation and Surgical Excision
• A streamlined one-stop service for the excision of type B post-axial polydactyly
• Acquired Digital Fibrokeratoma: A Report of Five Cases and Review of the Literature
• Affinity-optimizing enhancer variants disrupt development
• An unusual presentation of pacifier thumb duplication with VACTERL association: Case report and review of literature
• Are the complications after laparo-assisted endo-rectal pull-through for Hirschsprung disease related to the change of the anal tone?
• Atypical Wassel type VI thumb duplication treated with on-top plasty
• Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <em>BBS9</em>
• Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
• Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine
• Bardet-Biedl syndrome with unique manifestations of congenital giant nevi and refractory anemia: a case report from Palestine
• Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management
• Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction
• Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
• Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype(s)
• Cancer risk in individuals with polydactyly: a Swedish population-based cohort study
• Central Tetrapolydactyly With Atrial Septal Defect and Facial Nerve Palsy in a 15-Month-Old Female Child
• Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G&gt;A
• Characterizing the Timing of Surgical Repair of Congenital Hand Differences in the United States
• Chronic kidney disease on the background of bardet-biedl syndrome: a case report and review of literature
• Clinical features of a novel compound heterozygous genotype of the <em>BBS2</em> gene: a case report
• Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review
• Comparison of Surgical Wait Times and Procedure Length in the Management of Postaxial Polydactyly Using Local or General Anesthesia
• Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011-2020
• Congenital three generation wide familial non-syndromic polydactyly
• Detection of non-cardiac fetal abnormalities by ultrasound at 11-14 weeks: systematic review and meta-analysis
• Ectrodactyly with Polydactyly in a Dog-Case Description and Description of Surgical Therapy with Resection and Fusion Podoplasty
• Ellis-van Creveld syndrome: a case report
• Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China
• Extensive Phenotypic Variability in Syndrome Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly, and Lissencephaly (DREAM-PL): A Case Report Highlighting Diagnostic and Management Challenges
• Genetic analysis of a fetus with Meckel syndrome due to variants of TMEM67 gene
• Gyratory Seizures in Hypothalamic Hamartoma
• Heavy metals and trace elements in maternal blood and prevalence of congenital limb abnormalities among newborns: the Japan Environment and Children's Study
• Identification of a novel IQCE variant in a Korean patient with nonsyndromic postaxial polydactyly
• Identification of labor capacity of fracture of the polydactyly thumb: A case report
• Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly
• Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome
• In the Shadows of Rarity: A Case Report of Syndromic Cleft Lip and Palate!
• Increasing Sufu gene dosage reveals its unorthodoxical role in promoting polydactyly and medulloblastoma tumorigenesis
• Medical findings and congenital anomalies in Vermeer's paintings
• Moderate altitude as a risk factor for isolated congenital malformations. Results from a case-control multicenter-multiregional study
• Modified Bilhaut-Cloquet procedure for Wassel type III-IV polydactyly
• MYCN in human development and diseases
• Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review
• Novel Finding of an Excess Bone in Postaxial Polydactyly of the Foot
• Ocular impairment as the first and only manifestation of Bardet-Biedl syndrome: A case report
• On-Top Osteotomy of the Phalanx Base Combined With Modified Bilhaut: Cloquet Procedure for Atypical Radial Polydactyly
• Operative Management of Y-Shaped Metatarsal with Biphalangeal Sixth Toe
• Perinatal prevalence of birth defects in the Mainland of China, 2000-2021: a systematic review and meta-analysis
• Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome
• Phenotypic and cytogenetic variability of patau syndrome in Morocco
• Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome
• Polybrachysyndactyly in all 4 extremities: Case report
• Polydactyly appeared in early 13th-century Chinese painting
• Polydactyly-Myopia Syndrome: Genetic and Ophthalmologic Perspectives
• Polyhydramnios associated with rare genetic syndromes: two case reports
• Positive non-invasive prenatal testing for trisomy 13 in the first trimester in a pregnancy with fetal holoprosencephaly, cebocephaly and postaxial polydactyly
• Postaxial polydactyly of the bilateral hand in toddler: Case report and literature review
• Prenatal diagnosis of Joubert syndrome: A case report
• PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient
• Proteomic Analyses Reveal the Role of Alpha-2-Macroglobulin in Canine Osteosarcoma Cell Migration
• Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype-A case report and literature review
• Risk of congenital anomalies in children who have a sibling with cancer: A matched cohort study
• Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene
• Rosai Dorfman Disease: A Rare Case Report
• Season, household registry and isolated birth defects: a population-based case-control study in Danyang, China
• Secondary complications in Wassel II &amp; IV thumb duplication: a comprehensive review of preventive measures
• Single-cell transcriptome analysis reveals characteristic transcription factors in polydactyly
• Skeletal dysmorphology and mineralization defects in Fgf20 KO mice
• Spectrum of pathogenic variants and high prevalence of pathogenic <em>BBS7</em> variants in Russian patients with Bardet-Biedl syndrome
• Streamlined, single-step non-viral CRISPR-Cas9 knockout strategy enhances gene editing efficiency in primary human chondrocyte populations
• Successful surgical reconstruction of atypical variant mirror hand anomaly in a 2-year-old female child: a unique case report
• Supporting a Tsonga learner living with Bardet-Biedl syndrome, a rare complex disability
• Surgical management of bilateral preaxial and postaxial polydactyly with syndactyly: A case report
• The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers
• The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia
• The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies
• The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice
• The Use of Ultrasound-Guided 3D-Constructed Obturator Device in the Management of Cleft Lip and Palate: A Case Series
• Treatment for Lateral Ray Polydactyly with Brachydactyly of the Foot
• Trisomy 13 With Bilateral Congenital Anophthalmia: A Case Report
• Unraveling Patterns of Congenital Structural Malformations in Infants: A Hospital-Based Descriptive Study
• Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome's Rare Features Across Generations in a Familial Trilogy
• Vacterl syndrome: Medical and stomatological considerations for comprehensive patient management
• Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
• Weyers Acrofacial Dysostosis: A Case Report
• Whole genome resequencing reveals candidate genes for postaxial polydactyly in Large White pigs
• Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of <em>BBS9</em>
• Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement
• Whole-Genome Sequencing for Identifying Candidate Genes Related to the Special Phenotypes of the Taihu Dianzi Pigeon