Research & Literature

Congenital limb deficiency disorders.

Wilcox WR, Coulter CP, Schmitz ML

Clinics in perinatology 2015; (42(2)):281-300, viii.

Hand Function and Appearance following Reconstruction for Congenital Hand Differences: A Qualitative Analysis of Children and Parents.

Kelley BP, Franzblau LE, Chung KC, et al.

Plastic and reconstructive surgery 2016; (138(1)):73e-81e doi:10.1097/PRS.0000000000002286.

Congenital hand anomalies in Upper Egypt.

Abulezz T, Talaat M, Elsani A, Allam K

Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India 2016; (49(2)):206-213 doi:10.4103/0970-0358.191303.

Postoperative Patient- and Parent-Reported Outcomes for Children with Congenital Hand Differences: A Systematic Review.

Bickham RS, Waljee JF, Chung KC, Adkinson JM

Plastic and reconstructive surgery 2017; (139(6)):1422-1429 doi:10.1097/PRS.0000000000003358.

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.

Carter TC, Sicko RJ, Kay DM, et al.

Journal of human genetics 2017; (62(10)):877-884 doi:10.1038/jhg.2017.56.

A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1.

Ullah A, Hammid A, Umair M, Ahmad W

Molecular syndromology 2017; (8(2)):79-84 doi:10.1159/000453350.

Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation.

Ullah A, Gul A, Umair M, et al.

Genetics and molecular biology 2018; (41(1)):1-8 doi:10.1590/1678-4685-GMB-2016-0162.

Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.

Yang X, Lin X, Zhu Y, et al.

Molecular medicine reports 2018; (17(6)):7553-7558 doi:10.3892/mmr.2018.8838.

Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot).

Guero S, Holder-Espinasse M

The Journal of hand surgery, European volume 2019; (44(1)):80-87 doi:10.1177/1753193418807375.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Holder-Espinasse M, Jamsheer A, Escande F, et al.

European journal of human genetics : EJHG 2019; (27(4)):525-534 doi:10.1038/s41431-018-0326-9.

Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.

Zheng J, Liu H, Zhan Y, et al.

Molecular genetics & genomic medicine 2019; (7(6)):e704 doi:10.1002/mgg3.704.

The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency.

Kucińska-Chahwan A, Szczęśniak D, Nowakowska B, Roszkowski T

Taiwanese journal of obstetrics & gynecology 2019; (58(4)):574-576 doi:10.1016/j.tjog.2019.05.026.

[Congenital ectrodactyly caused by chromosome 10q24.31 duplication and its pathogenetic analysis].

Zhang XQ, Wang J, Xiong F, et al.

Yi chuan = Hereditas 2019; (41(8)):716-724 doi:10.16288/j.yczz.19-125.

Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.

Kodabuckus SS, Quinlan-Jones E, McMullan DJ, et al.

Fetal diagnosis and therapy 2020; (47(7)):554-564 doi:10.1159/000504976.

Nonsyndromic Split-Hand/Foot Malformation: Recent Classification.

Umair M, Hayat A

Molecular syndromology 2020; (10(5)):243-254 doi:10.1159/000502784.

[Surgical Treatment of Congenital Cleft Foot - Case Study and Literature Review].

Šponer P, Kučera T

Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca 2020; (87(1)):58-61.

[Genetic analysis of a pedigree affected with congenital split-hand/foot malformation].

Li Q, Tong M, Chen C, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(4)):467-470 doi:10.3760/cma.j.issn.1003-9406.2020.04.026.

Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan.

Mano H, Fujiwara S, Takamura K, et al.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 2021; (26(4)):650-654 doi:10.1016/j.jos.2020.05.008.

Digital Transfer for Hand Reconstruction in Cleft Hand and Foot Differences.

Taghinia AH, Taylor EM, Winograd J, et al.

Journal of reconstructive microsurgery 2021; (37(7)):589-596 doi:10.1055/s-0041-1723819.

Rehabilitation Approach for a Child with Cerebral Palsy and Upper Limb Deficiency.

Mano H, Inakazu E, Noguchi S, et al.

Progress in rehabilitation medicine 2021; (6()):20210016 doi:10.2490/prm.20210016.

A retrospective comparison of total versus partial cross-bone resection in surgical management of congenital cleft hand.

Ayık Ö, Demirel M, Kozanoğlu E, Aydın A

Hand surgery & rehabilitation 2021; (40(6)):787-793 doi:10.1016/j.hansur.2021.08.003.

Functionality Assessment of Patients With Cleft Hands.

Rosa MFF, do Monte TM, Raposo-Amaral CE, et al.

The Journal of craniofacial surgery 2022; (33(1)):104-107 doi:10.1097/SCS.0000000000008022.

Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.

Kingdom R, Wright CF

Frontiers in genetics 2022; (13()):920390 doi:10.3389/fgene.2022.920390.

Cleft Hand-Our Experience of Five Cases.

Singh K, Aggarwal K, Beniwal M

Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India 2022; (55(3)):302-306 doi:10.1055/s-0042-1750373.

A Rare Case Report of Split Hand and Foot Malformation.

Pindaria KP, Malik I, Dua K, et al.

Journal of orthopaedic case reports 2023; (13(4)):49-52 doi:10.13107/jocr.2023.v13.i04.3612.

Advances in Pediatric Toe Transfers.

Shen XF, Khoo SS

Hand clinics 2024; (40(2)):237-248 doi:10.1016/j.hcl.2023.10.004.

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia.

Lü Y, Yu Y, Chang J, et al.

Prenatal diagnosis 2025; (45(12)):1651-1659 doi:10.1002/pd.6727.

Surgical management of atypical cleft hand: Rare congenital orthopedic disorder.

Ismiarto YD, Setiadi C, Fachri D, Arum IP

International journal of surgery case reports 2025; (127()):110819 doi:10.1016/j.ijscr.2025.110819.

Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway.

Zhuang J, Li Y, Chen Y, et al.

BMC genomics 2025; (26(1)):113 doi:10.1186/s12864-025-11297-3.

Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study.

Carter TC, Kay DM, Pangilinan F, et al.

Birth defects research 2025; (117(5)):e2472 doi:10.1002/bdr2.2472.

[Expert consensus on the clinical diagnosis and treatment of Split-hand/foot malformations (2025 Edition)].

Obstetrics And Gynecology Ultrasound Group Ultrasound Branch Of Chinese Medical Association , Clinical Genetics Group Medical Geneticist Branch Chinese Medical Doctor Association , Group Of Genetic Disease Prevention And Control Birth Defect Prevention And Control Committee Chinese Society Of Preventive Medicine , et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2025; (42(7)):779-788 doi:10.3760/cma.j.cn511374-20250518-00305.

Surgical management of ectrodactyly-associated foot deformity in a child: a case report.

Raza S, Rehman S, Toor Z, et al.

Journal of medical case reports 2025; (19(1)):452 doi:10.1186/s13256-025-05389-7.

Ectrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and Literature Review.

Mohamed RH, Khalifa HM, Hassan HY, et al.

Cureus 2025; (17(9)):e92888 doi:10.7759/cureus.92888.

Syndactylisation with internal bracing using a suture-button construct for severe cleft foot (Ectrodactyly): A 3-year follow-up case report.

Sahu A, Garika SS, Manhas V

Journal of clinical orthopaedics and trauma 2025; (71()):103243 doi:10.1016/j.jcot.2025.103243.

Psychological Resilience in Children With Lower Limb Deformities: A Multicenter Quality of Life Study.

Griffiths AL, Narayanan UG, Iobst CA, Donnan LT

Journal of pediatric orthopedics 2026; (46(7)):426-430 doi:10.1097/BPO.0000000000003339.

Split Hand/Foot Malformation with Acquired Middle Ear Cholesteatoma Secondary to Eustachian Tube Dysfunction: A Case Report and Literature Review.

Yan W, Li L, Mao Y, et al.

International medical case reports journal 2026; (19()):609036 doi:10.2147/IMCRJ.S609036.