Research & Literature

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

Patel R, Singh CB, Bhattacharya V, et al.

Congenital anomalies 2016; (56(2)):94-7 doi:10.1111/cga.12139.

Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.

Nguyen TQ, Saitoh M, Trinh HT, et al.

Congenital anomalies 2016; (56(5)):209-16 doi:10.1111/cga.12155.

Polydactyly: A Review.

Farrugia MC, Calleja-Agius J

Neonatal network : NN 2016; (35(3)):135-42 doi:10.1891/0730-0832.35.3.135.

Renal cystic disease and associated ciliopathies.

Kagan KO, Dufke A, Gembruch U

Current opinion in obstetrics & gynecology 2017; (29(2)):85-94 doi:10.1097/GCO.0000000000000348.

GLI3-related polydactyly: a review.

Al-Qattan MM, Shamseldin HE, Salih MA, Alkuraya FS

Clinical genetics 2017; (92(5)):457-466 doi:10.1111/cge.12952.

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

Umair M, Shah K, Alhaddad B, et al.

European journal of human genetics : EJHG 2017; (25(8)):960-965 doi:10.1038/ejhg.2017.83.

Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.

Ito S, Kitazawa R, Haraguchi R, et al.

Diagnostic pathology 2018; (13(1)):1 doi:10.1186/s13000-017-0682-8.

Polydactyly, postaxial, type B.

Holmes LB, Nasri H, Hunt AT, et al.

Birth defects research 2018; (110(2)):134-141 doi:10.1002/bdr2.1184.

To Tie or Not to Tie: A Systematic Review of Postaxial Polydactyly and Outcomes of Suture Ligation Versus Surgical Excision.

Chopan M, Sayadi L, Chim H, Buchanan PJ

Hand (New York, N.Y.) 2020; (15(3)):303-310 doi:10.1177/1558944718810885.

A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly.

Ni F, Han G, Guo R, et al.

Annals of plastic surgery 2019; (82(5)):570-573 doi:10.1097/SAP.0000000000001685.

Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.

Siracusano M, Riccioni A, Baratta A, et al.

Journal of medical case reports 2019; (13(1)):100 doi:10.1186/s13256-019-2043-6.

Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study.

Ortiz-Cruz G, Luna-Muñoz L, Arteaga-Vázquez J, Mutchinick OM

American journal of medical genetics. Part A 2019; (179(8)):1432-1441 doi:10.1002/ajmg.a.61193.

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.

Palencia-Campos A, Martínez-Fernández ML, Altunoglu U, et al.

Human mutation 2020; (41(1)):265-276 doi:10.1002/humu.23921.

Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome.

Chakrabarty S, Savantre SB, Ramachandra Bhat C, Satyamoorthy K

Gene 2020; (725()):144164 doi:10.1016/j.gene.2019.144164.

A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.

Kariminejad A, Ghaderi-Sohi S, Keshavarz E, et al.

Clinical genetics 2020; (97(6)):915-919 doi:10.1111/cge.13730.

Evaluation and Management of Preaxial Polydactyly.

Rogers BH, Schmieg SL, Pehnke ME, Shah AS

Current reviews in musculoskeletal medicine 2020; (13(4)):545-551 doi:10.1007/s12178-020-09644-w.

Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3.

Khan H, , Ahmed S, et al.

Klinische Padiatrie 2021; (233(2)):53-58 doi:10.1055/a-1223-2489.

Mid-term foot function and pedobarographic analysis of 52 feet after polydactyly resection in childhood.

Farr S, Jauker F, Ganger R, Kranzl A

The bone & joint journal 2021; (103-B(2)):415-420 doi:10.1302/0301-620X.103B2.BJJ-2020-1341.R2.

Local Anesthesia Alone for Postaxial Polydactyly Surgery in Infants.

Bjorklund KA, O'Brien M

Hand (New York, N.Y.) 2022; (17(6)):1286-1291 doi:10.1177/1558944721994255.

Surgical Procedures Based on the Arthrographic Findings of the Fifth MTP Joint With Proximal Phalanx Duplication in Postaxial Polydactyly of the Foot.

Kurokawa T, Iba K, Hanaka M, et al.

The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle Surgeons 2021; (60(5)):983-989 doi:10.1053/j.jfas.2021.04.011.

Modified method for reconstruction of thumb abduction function in children undergoing surgical treatment of thumb duplication.

Zhou T, Zhang X, Yu X, et al.

Journal of children's orthopaedics 2021; (15(2)):97-105 doi:10.1302/1863-2548.15.200197.

Pediatric Office Procedures.

Sanders MH, Jain V, Malone M

Primary care 2021; (48(4)):707-728 doi:10.1016/j.pop.2021.07.010.

Long-Term Outcomes After Treatment for Type B Ulnar Polydactyly.

Goebel GJ, Dawson S, Loewenstein SN, Adkinson JM

Journal of pediatric orthopedics 2022; (42(5)):e466-e469 doi:10.1097/BPO.0000000000002106.

Operative technique and management of central foot polydactyly.

Kim JS, Fowler JR, Davit AJ

JPRAS open 2022; (32()):61-71 doi:10.1016/j.jpra.2022.01.006.

Genetic overview of postaxial polydactyly: Updated classification.

Ahmad Z, Liaqat R, Palander O, et al.

Clinical genetics 2023; (103(1)):3-15 doi:10.1111/cge.14224.

Renal involvement as a potential feature of pyogenic arthritis, pyoderma gangrenosum, and acne syndrome with E250K mutation of PSTPIP1 gene.

Zhao R, Novice T, Konda S

JAAD case reports 2023; (32()):48-51 doi:10.1016/j.jdcr.2022.11.030.

Morphologic Changes in Postaxial Polydactyly of the Foot: A Standardized Quantitative Analysis Using the Watanabe-Fujita Classification.

Makino A, Saito S

Plastic and reconstructive surgery 2024; (153(1)):170e-180e doi:10.1097/PRS.0000000000010565.

Bardet-Biedl Syndrome Presenting With Bifid Epiglottis: A Case Report and Review of Literature.

Saif SA, Alzaidi SS, Alghamdi AF, et al.

Cureus 2023; (15(4)):e37849 doi:10.7759/cureus.37849.

Radial Polydactyly.

Khabyeh-Hasbani N, Tozzi D, Guerra SM, Koehler SM

JBJS reviews 2022; (10(5)) doi:10.2106/JBJS.RVW.21.00214.

A Rare Presentation of Postaxial Polydactyly in a 2-Year-Old Female with Ellis-van Creveld Syndrome.

Anthony T, Nguyen ET, Moyer B, et al.

Journal of hand surgery global online 2023; (5(6)):852-855 doi:10.1016/j.jhsg.2023.08.007.

Operative Management of Y-Shaped Metatarsal with Biphalangeal Sixth Toe.

Montaño-Jiménez P, Pérez-Belloso AJ, Muriel-Sánchez JM, et al.

Advances in skin & wound care 2024; (37(6)):1-8 doi:10.1097/ASW.0000000000000148.

Characterizing the Timing of Surgical Repair of Congenital Hand Differences in the United States.

Cummings OW, Koh DJ, Gong J, et al.

Hand (New York, N.Y.) 2025; (20(7)):1041-1047 doi:10.1177/15589447241257646.

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.

Wang RY, Xiong Q, Chang SH, et al.

Journal of orthopaedic surgery and research 2024; (19(1)):449 doi:10.1186/s13018-024-04928-0.

Comparison of Surgical Wait Times and Procedure Length in the Management of Postaxial Polydactyly Using Local or General Anesthesia.

Mosa A, Somasundaram M, Ferdosi DV, et al.

Plastic surgery (Oakville, Ont.) 2024; (32(3)):384-388 doi:10.1177/22925503221134813.

Postaxial polydactyly: A case report highlighting genetic context, epidemiological trends, and management options.

Yared G, Ghazal K, Younis A, et al.

SAGE open medical case reports 2024; (12()):2050313X241282215 doi:10.1177/2050313X241282215.

Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.

Qi Y, Liu K, Wei Y, et al.

Molecular genetics & genomic medicine 2025; (13(3)):e70088 doi:10.1002/mgg3.70088.

Use of skeletal and soft tissue imaging to guide the surgical repair of misclassified Wassel type VI thumb duplication with convergent deformity.

Zhu Y, Fu Y, Lu K, et al.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2025; (103()):354-362 doi:10.1016/j.bjps.2025.02.006.

Clinical Effects of Distal Phalanges and Nail Bed Fusion in Type III Thumb Duplication.

Han Q, Liu F, Zhang G, Wang D

Plastic and reconstructive surgery. Global open 2025; (13(3)):e6545 doi:10.1097/GOX.0000000000006545.

A Rare Footprint: A Case Report of Isolated Pre-Axial Fully Developed Supernumerary Toe.

Kumar V, Choudhary M, Rajappa S, et al.

Journal of orthopaedic case reports 2025; (15(4)):167-170 doi:10.13107/jocr.2025.v15.i04.5486.

Ulnar polydactyly of the hand: a classification system and clinical series.

Chen D, Zhong W, Sun L, et al.

BMC musculoskeletal disorders 2025; (26(1)):469 doi:10.1186/s12891-025-08719-4.

Predictors of Syndromic Association in Ulnar Polydactyly: Analysis of a Multicenter Congenital Hand Differences Registry in the United States.

McQuillan T, Antonellis H, Wall L, et al.

The Journal of hand surgery 2026; (51(3)):292-300 doi:10.1016/j.jhsa.2025.03.019.

The CoULD Ulnar Polydactyly Classification: A Multicenter Analysis.

Mendenhall SD, Cordray H, Steinman SE, et al.

Plastic and reconstructive surgery 2026; (157(2)):315-325 doi:10.1097/PRS.0000000000012224.

The relevance of primary cilia in neurological disorders.

Serpieri V, D'Abrusco F, Valente EM

The Lancet. Neurology 2025; (24(9)):763-775 doi:10.1016/S1474-4422(25)00226-1.

Long-term postoperative outcomes of post-axial polydactyly of the foot with an emphasis on collateral ligament reconstruction.

Zeniya T, Iba K, Hanaka M, et al.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 2026; (31(3)):676-681 doi:10.1016/j.jos.2025.10.009.

Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.

Shariati M, Tavassoli-Hojjati S, Hoseini AP, Jadidi H

Case reports in dentistry 2025; (2025()):6628305 doi:10.1155/crid/6628305.

Bilateral Postaxial Polydactyly of the Feet in an Adult: Surgical Management and Outcomes.

Aljefri A, Batouk OA, Esmaiel AA, et al.

Cureus 2026; (18(1)):e101428 doi:10.7759/cureus.101428.