Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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University Medical Center Groningen
Groningen, The Netherlands
Washington University in St. Louis
St Louis, United States
Royal Orthopaedic Hospital
Birmingham, United Kingdom
Boston Children's Hospital
Boston, United States
Texas Scottish Rite Hospital for Children
Dallas, United States
University of Michigan
Ann Arbor, United States
Imperial College London
London, United Kingdom
Sunnaas sykehus
Nesoddtangen, Norway
Defense Health Agency
Falls Church, United States
Brown University
Providence, United States
References
References (80)
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Current Concepts in Radial Club Hand.
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The open orthopaedics journal 2017; (11()):369-377 doi:10.2174/1874325001711010369.
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Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification.
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The Journal of hand surgery 2017; (42(7)):533-545.e4 doi:10.1016/j.jhsa.2017.03.043.
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Ankle Reconstruction in Fibular Hemimelia: New Approach.
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Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980-2012.
Bedard T, Lowry RB, Sibbald B, et al.
American journal of medical genetics. Part A 2018; (176(1)):19-28 doi:10.1002/ajmg.a.38513.
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Chronic pain and fatigue in adults with congenital unilateral upper limb deficiency in Norway. A cross-sectional study.
Johansen H, Bathen T, Andersen LØ, et al.
PloS one 2018; (13(1)):e0190567 doi:10.1371/journal.pone.0190567.
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Syme Amputation: A Systematic Review.
Braaksma R, Dijkstra PU, Geertzen JHB
Foot & ankle international 2018; (39(3)):284-291 doi:10.1177/1071100717745313.
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Soft-Tissue Distraction Prior to Single Bone Forearm Surgery in Ulnar Longitudinal Deficiency: A Report of Two Cases.
Schachinger F, Girsch W, Farr S
The journal of hand surgery Asian-Pacific volume 2018; (23(1)):153-157 doi:10.1142/S2424835518720116.
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Developmental biology of the upper limb.
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Congenital limb deficiency in Japan: a cross-sectional nationwide survey on its epidemiology.
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BMC musculoskeletal disorders 2018; (19(1)):262 doi:10.1186/s12891-018-2195-3.
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Outcomes of radialization for radial longitudinal deficiency: 20 limbs with minimum 5-year follow-up.
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The Journal of hand surgery, European volume 2019; (44(3)):304-309 doi:10.1177/1753193418788935.
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Constriction band syndrome in a healthy full-term newborn.
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Canadian family physician Medecin de famille canadien 2018; (64(8)):577-578.
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A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) - A Case Report.
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Femoral bifurcation and bilateral tibial hemimelia: case report.
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Education and work participation among adults with congenital unilateral upper limb deficiency in Norway: A cross-sectional study.
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Ulnar hemimelia: a report of four cases.
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Management of severe congenital flexion deformity of the knee using Ilizarov method.
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Lower Extremity Surgical Treatment to Improve Function in a Patient with Gollop-Wolfgang Complex: A Case Report.
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JBJS case connector 2019; (9(2)):e0254 doi:10.2106/JBJS.CC.18.00254.
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Amputation Versus Staged Reconstruction for Severe Fibular Hemimelia: Assessment of Psychosocial and Quality-of-Life Status and Physical Functioning in Childhood.
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Clinical and functional results of radial club hand with centralization and pollicization using the second metacarpus: A clinical case series.
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Users' and therapists' perceptions of myoelectric multi-function upper limb prostheses with conventional and pattern recognition control.
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Use of Paley Classification and SUPERankle Procedure in the Management of Fibular Hemimelia.
Kulkarni RM, Arora N, Saxena S, et al.
Journal of pediatric orthopedics 2019; (39(9)):e708-e717 doi:10.1097/BPO.0000000000001012.
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Chronic low back pain influences trunk neuromuscular control during unstable sitting among persons with lower-limb loss.
Butowicz CM, Acasio JC, Silfies SP, et al.
Gait & posture 2019; (74()):236-241 doi:10.1016/j.gaitpost.2019.09.019.
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Characterizing and Understanding the Low Back Pain Experience Among Persons with Lower Limb Loss.
Butowicz CM, Silfies SP, Vendemia J, et al.
Pain medicine (Malden, Mass.) 2020; (21(5)):1068-1077 doi:10.1093/pm/pnz293.
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The Role of MRI in Children With Congenital Limb Deficiencies With Associated Scoliosis.
Gettys FK, Carpenter A, Stasikelis PJ
Journal of pediatric orthopedics 2020; (40(5)):e390-e393 doi:10.1097/BPO.0000000000001484.
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Radial Longitudinal Deficiency: Severity Differences Between U.S. and Japanese Cohorts.
Halverson SJ, Takayama S, Ochi K, et al.
The Journal of hand surgery 2020; (45(3)):196-202.e2 doi:10.1016/j.jhsa.2019.12.004.
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The Oberg-Manske-Tonkin (OMT) Classification of Congenital Upper Extremities: Update for 2020.
Goldfarb CA, Ezaki M, Wall LB, et al.
The Journal of hand surgery 2020; (45(6)):542-547 doi:10.1016/j.jhsa.2020.01.002.
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Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.
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Oberg-Manske-Tonkin Classification of Congenital Upper Extremity Anomalies: The First Report From Turkey.
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Syme Amputation: Function, Satisfaction, and Prostheses.
Morrison SG, Thomson P, Lenze U, Donnan LT
Journal of pediatric orthopedics 2020; (40(6)):e532-e536 doi:10.1097/BPO.0000000000001430.
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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.
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Swedish parents' experiences of their role in treatment for children with congenital limb reduction deficiency: Decision-making and treatment support.
Sjöberg L, Hermansson L, Lindner H, Fredriksson C
Child: care, health and development 2020; (46(6)):723-732 doi:10.1111/cch.12802.
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Randomized Trial Comparing Preliminary Results of Radialization and Centralization Procedures in Bayne Types 3 and 4 Radial Longitudinal Deficiency.
Mittal S, Garg B, Mehta N, et al.
Journal of pediatric orthopedics 2020; (40(9)):509-514 doi:10.1097/BPO.0000000000001606.
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Association of Radial Longitudinal Deficiency and Thumb Hypoplasia: An Update Using the CoULD Registry.
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The Journal of bone and joint surgery. American volume 2020; (102(20)):1815-1822 doi:10.2106/JBJS.20.00281.
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Pollicization of the Index Finger in the Treatment of Thumb Hypoplasia.
Mendez M, Parot C, Pino P, et al.
Techniques in hand & upper extremity surgery 2020; (25(3)):136-141 doi:10.1097/BTH.0000000000000322.
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Defining Features of Hand Anomalies in Severe Thumb Hypoplasia: A Classification Modification.
Chang PS, Goldfarb CA, Bae DS, et al.
The Journal of hand surgery 2021; (46(5)):422.e1-422.e5 doi:10.1016/j.jhsa.2020.10.005.
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The 2020 Oberg-Manske-Tonkin classification of congenital upper limb differences: updates and challenges.
Lam WL, Oberg KC, Goldfarb CA
The Journal of hand surgery, European volume 2020; (45(10)):1117-1119 doi:10.1177/1753193420964335.
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Bilateral mirror hand: 2-year follow-up and literature review.
González-Pola R, Hernández-Álvarez MA, Domínguez-Castro CR, et al.
Acta ortopedica mexicana 2020; (34(4)):261-266.
PMID: 33535286 - 54
Prenatal diagnosis of tibial hemimelia type I and omphalocele, a rare entity and postnatal correlation.
Molina-Giraldo S, Saucedo JA, Navarro-Devia AJ, Buitrago-Leal M
BJR case reports 2021; (7(1)):20200002 doi:10.1259/bjrcr.20200002.
PMID: 33614110 - 55
Usual Presentation Has Odds: Unilateral Tibial Hemimelia in One of Dizygotic Twins.
Al-Chalabi MMM, Wan Sulaiman WA
Cureus 2021; (13(1)):e12834 doi:10.7759/cureus.12834.
PMID: 33633877 - 56
Opinions on rehabilitation care of young adults with transversal upper limb reduction deficiency in their transition to adulthood.
Huurneman KAM, Lankhorst IMF, Baars ECT, et al.
Journal of pediatric rehabilitation medicine 2021; (14(1)):103-112 doi:10.3233/PRM-200690.
PMID: 33720858 - 57
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.
PMID: 33768185 - 58
Longitudinal study of prosthesis use in veterans with upper limb amputation.
Resnik L, Borgia M, Biester S, Clark MA
Prosthetics and orthotics international 2021; (45(1)):26-35 doi:10.1177/0309364620957920.
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Deformity Reconstruction Surgery for Tibial Hemimelia.
Chong DY, Paley D
Children (Basel, Switzerland) 2021; (8(6)) doi:10.3390/children8060461.
PMID: 34072809 - 60
A rare case of limb deficiency syndrome: Gollop WolfGang syndrome.
Hapani R, Shastri M
Radiology case reports 2021; (16(8)):2053-2055 doi:10.1016/j.radcr.2021.05.025.
PMID: 34158891 - 61
Lengthening Reconstruction Surgery for Fibular Hemimelia: A Review.
Fuller CB, Shannon CE, Paley D
Children (Basel, Switzerland) 2021; (8(6)) doi:10.3390/children8060467.
PMID: 34199455 - 62
Radial Club Hand Treated by Paley Ulnarization Generation 3: Is this the New Centralization?
Deszczynski JM, Albrewczynski T, Shannon C, Paley D
Children (Basel, Switzerland) 2021; (8(7)) doi:10.3390/children8070562.
PMID: 34210017 - 63
Management of a severe radial longitudinal deficiency using a magnetically controlled growing rod.
Le Hanneur M, Langlais T, Fitoussi F
The Journal of hand surgery, European volume 2022; (47(5)):527-529 doi:10.1177/17531934211051289.
PMID: 34633884 - 64
Adolescents with congenital limb reduction deficiency: Perceptions of treatment during childhood and its meaning for their current and future situation.
Sjöberg L, Hermansson L, Lindner H, Fredriksson C
Child: care, health and development 2022; (48(4)):613-622 doi:10.1111/cch.12967.
PMID: 35043417 - 65
Limb salvage surgery has a higher complication rate than amputation but is still beneficial for patients younger than 10 years old with osteosarcoma of an extremity.
Kaneuchi Y, Yoshida S, Fujiwara T, et al.
Journal of pediatric surgery 2022; (57(11)):702-709 doi:10.1016/j.jpedsurg.2022.04.001.
PMID: 35490054 - 66
Fibular hemimelia.
Georgescu T, Ionescu O, Toader OD, et al.
Journal of medicine and life 2022; (15(4)):587-588 doi:10.25122/jml-2021-0397.
PMID: 35646168 - 67
Postaxial hypoplasia of the lower extremity associated with congenital dislocation of the patella: A case report.
Charles-Lozoya S, Ruíz-Zenteno G, Cobos-Aguilar H, et al.
Medicine 2022; (101(25)):e29283 doi:10.1097/MD.0000000000029283.
PMID: 35758357 - 68
Multidisciplinary Extremity Preservation Program Improves Quality of Life for Patients with Advanced Limb Threat.
Fereydooni A, Yawary F, Sen S, et al.
Annals of vascular surgery 2022; (87()):302-310 doi:10.1016/j.avsg.2022.05.047.
PMID: 35803456 - 69
Index pollicization: an evolution of ideas and techniques from a paediatric orthopaedic institution.
Carter PR, Ezaki M, Oishi S
The Journal of hand surgery, European volume 2022; (47(10)):1004-1015 doi:10.1177/17531934221121897.
PMID: 36071638 - 70
Introduction to Limb Deficiency for the Pediatrician.
Scott-Wyard P
Pediatric clinics of North America 2023; (70(3)):531-543 doi:10.1016/j.pcl.2023.01.011.
PMID: 37121641 - 71
Outcomes of early treatment of radial dysplasia.
Nguyen PD, Light TR, Mai TT
Journal of clinical orthopaedics and trauma 2024; (50()):102357 doi:10.1016/j.jcot.2024.102357.
PMID: 38370427 - 72
Pollicization of index Fingers For Bilateral Hypoplastic Thumbs of Twin Babies: Case Series At Cure Children's Hospital of Ethiopia.
Mohammed T, Jimma TM, Zerfu TT, Kassaahun ME
International medical case reports journal 2024; (17()):327-333 doi:10.2147/IMCRJ.S454360.
PMID: 38623353 - 73
BONE RECONSTRUCTION IN THE TREATMENT OF TIBIAL HEMIMELIA: AN ALTERNATIVE TO AMPUTATION?
Sola YN, Mangueira LJA, Portugal PM, et al.
Acta ortopedica brasileira 2024; (32(spe1)):e268462 doi:10.1590/1413-785220243201e268462.
PMID: 38716466 - 74
Upper Limb Function in People With Upper and Lower Limb Loss 8 Years Postinjury: The Armed Services Trauma Outcome Study (ADVANCE) Cohort Study.
Watson FCE, Kedgley AE, Schofield S, et al.
Physical therapy 2024; (104(10)) doi:10.1093/ptj/pzae082.
PMID: 38952004 - 75
An Algorithm for Management of Radial Longitudinal Deficiency.
Bhat AK, Pai G M
The journal of hand surgery Asian-Pacific volume 2024; (29(6)):508-518 doi:10.1142/S2424835524300093.
PMID: 39544041 - 76
Case Report: Achieving ankle joint stability through early intervention in an 8-year-old with congenital fibular hemimelia.
Ma Y, Pan N, Peng G, Yang R
Frontiers in pediatrics 2025; (13()):1528401 doi:10.3389/fped.2025.1528401.
PMID: 40519548 - 77
SWEDISH TRANSLATION, CULTURAL ADAPTATION AND TESTING OF THE PROSTHETIC UPPER EXTREMITY FUNCTIONAL INDEX-2.
Widehammar C, Sjöberg L
Journal of rehabilitation medicine. Clinical communications 2025; (8()):42151 doi:10.2340/jrm-cc.v8.42151.
PMID: 40529532 - 78
Functional Evaluation of Pollicization in Young Children with Radial Longitudinal Deficiency: Beneficial Results Despite the Presence of Finger Anomalies.
Mehta R, Sripathy AK, Thatte MR
Indian journal of orthopaedics 2026; (60(4)):886-892 doi:10.1007/s43465-025-01639-4.
PMID: 42027321 - 79
Atypical Bilateral Proximal Femoral Focal Deficiency: A Case Report and Review of Literature.
Hammad A, Merkabaoui HE, Moukaddam H, et al.
Case reports in pediatrics 2026; (2026()):7521784 doi:10.1155/crpe/7521784.
PMID: 42272856 - 80
Novel classification of tibial hemimelia and reconstruction-guiding principles.
Hosny GA, Elmesalamy N, Hussein MA, Abdelnaser A
International orthopaedics 2026; (50(7)):1807-1823 doi:10.1007/s00264-026-06910-3.
PMID: 42295321