Research & Literature

The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.

Pappas JG

Current problems in pediatric and adolescent health care 2015; (45(4)):112-7.

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

Gripp KW, Baker L, Kandula V, et al.

American journal of medical genetics. Part A 2016; (170(10)):2559-69 doi:10.1002/ajmg.a.37758.

An improved spreadsheet for calculating limb length discrepancy and epiphysiodesis timing using the multiplier method.

Mills G, Nelson S

Journal of children's orthopaedics 2016; (10(4)):313-9 doi:10.1007/s11832-016-0754-4.

Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?

Kalish JM, Deardorff MA

American journal of medical genetics. Part A 2016; (170(9)):2261-4 doi:10.1002/ajmg.a.37881.

Nomenclature and definition in asymmetric regional body overgrowth.

Kalish JM, Biesecker LG, Brioude F, et al.

American journal of medical genetics. Part A 2017; (173(7)):1735-1738 doi:10.1002/ajmg.a.38266.

Sonographic screening for Wilms tumor in children with CLOVES syndrome.

Peterman CM, Fevurly RD, Alomari AI, et al.

Pediatric blood & cancer 2017; (64(12)) doi:10.1002/pbc.26684.

Fifteen-minute consultation: Assessment, surveillance and management of hemihypertrophy.

Mark C, Hart C, McCarthy A, Thompson A

Archives of disease in childhood. Education and practice edition 2018; (103(3)):114-117 doi:10.1136/archdischild-2017-312645.

Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives.

Duffy KA, Grand KL, Zelley K, Kalish JM

Journal of genetic counseling 2018; (27(4)):844-853 doi:10.1007/s10897-017-0182-8.

Measurement of Patient's Perception on Limb-Length Discrepancy Compared With Weight-Bearing Orthoroentgenography in Total Hip Arthroplasty: A Prospective Study.

Piyakunmala K, Sangkomkamhang T

The Journal of arthroplasty 2018; (33(7)):2301-2305 doi:10.1016/j.arth.2018.02.024.

Timing of Epiphysiodesis to Correct Leg-Length Discrepancy: A Comparison of Prediction Methods.

Makarov MR, Jackson TJ, Smith CM, et al.

The Journal of bone and joint surgery. American volume 2018; (100(14)):1217-1222 doi:10.2106/JBJS.17.01380.

Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.

Christesen HT, Christensen LG, Löfgren ÅM, et al.

European journal of medical genetics 2020; (63(1)):103632 doi:10.1016/j.ejmg.2019.02.004.

Guided growth with tension band plate or definitive epiphysiodesis for treatment of limb length discrepancy?

Borbas P, Agten CA, Rosskopf AB, et al.

Journal of orthopaedic surgery and research 2019; (14(1)):99 doi:10.1186/s13018-019-1139-4.

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.

Sheppard SE, Lalonde E, Adzick NS, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(11)):2644-2649 doi:10.1038/s41436-019-0551-9.

Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.

Duffy KA, Cielo CM, Cohen JL, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2019; (181(4)):693-708 doi:10.1002/ajmg.c.31740.

Scoliosis Caused by Limb-Length Discrepancy in Children.

Kobayashi K, Ando K, Nakashima H, et al.

Asian spine journal 2020; (14(6)):801-807 doi:10.31616/asj.2019.0374.

Orthotic Insoles Improve Gait Symmetry and Reduce Immediate Pain in Subjects With Mild Leg Length Discrepancy.

Menez C, L'Hermette M, Coquart J

Frontiers in sports and active living 2020; (2()):579152 doi:10.3389/fspor.2020.579152.

Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth.

Carli D, De Pellegrin M, Franceschi L, et al.

The Journal of pediatrics 2021; (234()):123-127 doi:10.1016/j.jpeds.2021.01.020.

The following 3 cases were presented at the 2020 virtual PUOWG conferenceLate Presentation of Wilms Tumor in a Patient with Hemihypertrophy after Normal Screening.

Fischer KM, Mittal S, Long CJ, et al.

Urology 2021; (154()):271-274 doi:10.1016/j.urology.2021.01.054.

Isolated- and Beckwith-Wiedemann syndrome related- lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals.

Radley JA, Connolly M, Sabir A, et al.

Clinical genetics 2021; (100(3)):292-297 doi:10.1111/cge.13997.

Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy.

Shin CH, Lim C, Kim HY, et al.

Orphanet journal of rare diseases 2021; (16(1)):418 doi:10.1186/s13023-021-02042-6.

Growth Deceleration for Limb Length Discrepancy: Tension Band Plates Followed to Maturity.

Stevens P, Desperes M, McClure PK, et al.

Strategies in trauma and limb reconstruction 2022; (17(1)):26-31 doi:10.5005/jp-journals-10080-1548.

Isolated lateralized overgrowth: clinical, radiological, and auxological characteristics of a single-site cohort of 76 cases.

Romaris MJ, Caino S, Adamo P, Fano V

Archivos argentinos de pediatria 2022; (120(6)):405-414 doi:10.5546/aap.2022.eng.405.

Muscle hemihypertrophy syndrome with PIK3CA gene mutation associated with Tourette syndrome.

Hayoun-Vigouroux M, Audebert S, Vabres P, et al.

JAAD case reports 2022; (30()):128-130 doi:10.1016/j.jdcr.2022.10.025.

Effects of tension band plating on coronal plane alignment of lower extremities in children treated for idiopathic limb length discrepancy.

Erdal OA, Gorgun B, Razi O, et al.

Journal of children's orthopaedics 2022; (16(6)):505-511 doi:10.1177/18632521221135192.

Lateralized overgrowth as a guiding sign of abdominal neoplasms for pediatric orthopedic surgeons.

Parada-Avendaño I, Salvador H, García RG, et al.

Joint diseases and related surgery 2023; (34(1)):3-8.

Induced leg length inequality affects pelvis orientation during upright standing immediately following a sit-to-stand transfer: a pre-post measurement study.

Vella SP, Swain M, Downie A, et al.

BMC musculoskeletal disorders 2023; (24(1)):203 doi:10.1186/s12891-023-06302-3.

Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients.

Tüysüz B, Bozlak S, Uludağ Alkaya D, et al.

Cancers 2023; (15(6)) doi:10.3390/cancers15061872.

Botulinum Toxin A Injection for Hemihypertrophy-related Unilateral Gastrocnemius Hypertrophy.

Zhang Z, Wei Q, Li Y, et al.

Plastic and reconstructive surgery. Global open 2023; (11(10)):e5356 doi:10.1097/GOX.0000000000005356.

Anatomical leg length discrepancy in children: Can it be accurately determined using 3-D motion capturing?

Böhm H, Reinhold SM, Dussa CU

Gait & posture 2024; (109()):311-317 doi:10.1016/j.gaitpost.2024.02.013.

Isolated Lateralized Overgrowth - Phenotypic Spectrum and Molecular Alterations.

Yadav S, Madhumita RC, Gupta N, et al.

Indian journal of pediatrics 2025; (92(10)):1049-1055 doi:10.1007/s12098-024-05273-0.

Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition.

Gazzin A, Reynolds G, Allegro D, et al.

Clinical genetics 2025; (108(1)):49-57 doi:10.1111/cge.14713.

Relationship between leg length discrepancy and functional scoliosis in children and adolescents.

Xi F, Xue X, Ji E, et al.

BMC musculoskeletal disorders 2025; (26(1)):428 doi:10.1186/s12891-025-08693-x.

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Erwin AL, El Haija AA, Bennett JT, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(10)):101480 doi:10.1016/j.gim.2025.101480.

Gait asymmetries in children and adolescents with mild leg length discrepancy.

Dobler F, Ender J, Lengnick H, Alexander N

Gait & posture 2026; (125()):109960 doi:10.1016/j.gaitpost.2025.08.078.

Isolated Hemihyperplasia in Adolescence: A Case Report.

Solano R, Gomez K, Solano D, et al.

Cureus 2025; (17(8)):e90189 doi:10.7759/cureus.90189.

Scoliosis, leg length discrepancy, or both?

Mateo FM, Egea-Gámez RM, Mahboob OM

Current opinion in pediatrics 2026; (38(1)):93-99 doi:10.1097/MOP.0000000000001528.

Radiographic characterization and predictive modeling of functional scoliosis secondary to leg length discrepancy in adolescents.

Huang Y, Sun X, Qin X, et al.

Quantitative imaging in medicine and surgery 2025; (15(12)):12398-12412 doi:10.21037/qims-2025-1275.

Massive Upper Extremity Hemihyperplasia Secondary to Neurofibromatosis.

Lee SK, Sidharthan S, Hausman MR, Posner MA

JBJS case connector 2026; (16(2)) doi:e25.00501.