Research & Literature

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.

Mussa A, Russo S, Larizza L, et al.

Clinical genetics 2016; (89(4)):403-415 doi:10.1111/cge.12635.

[Beckwith-Wiedemann syndrome: What do you search in prenatal diagnosis? About 14 cases].

Le Vaillant C, Beneteau C, Chan-Leconte N, et al.

Gynecologie, obstetrique & fertilite 2015; (43(11)):705-11.

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

Kalish JM, Boodhansingh KE, Bhatti TR, et al.

Journal of medical genetics 2016; (53(1)):53-61 doi:10.1136/jmedgenet-2015-103394.

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome.

Mussa A, Di Candia S, Russo S, et al.

European journal of medical genetics 2016; (59(1)):52-64.

Fetal growth patterns in Beckwith-Wiedemann syndrome.

Mussa A, Russo S, de Crescenzo A, et al.

Clinical genetics 2016; (90(1)):21-7 doi:10.1111/cge.12759.

Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome.

Piersigilli F, Auriti C, Mondì V, et al.

Indian journal of pediatrics 2016; (83(12-13)):1476-1478 doi:10.1007/s12098-016-2187-y.

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol.

Mussa A, Molinatto C, Baldassarre G, et al.

The Journal of pediatrics 2016; (176()):142-149.e1.

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.

Maas SM, Vansenne F, Kadouch DJ, et al.

American journal of medical genetics. Part A 2016; (170(9)):2248-60 doi:10.1002/ajmg.a.37801.

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Tenorio J, Romanelli V, Martin-Trujillo A, et al.

American journal of medical genetics. Part A 2016; (170(10)):2740-9 doi:10.1002/ajmg.a.37852.

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.

The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome.

Duffy KA, Deardorff MA, Kalish JM

American journal of medical genetics. Part A 2017; (173(3)):581-584 doi:10.1002/ajmg.a.38068.

Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome.

Cielo CM, Duffy KA, Vyas A, et al.

Paediatric respiratory reviews 2018; (25()):58-63 doi:10.1016/j.prrv.2017.02.003.

Imprinted disorders and growth.

Giabicani É, Brioude F, Le Bouc Y, Netchine I

Annales d'endocrinologie 2017; (78(2)):112-113 doi:10.1016/j.ando.2017.04.010.

Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse.

Zammit M, Caruana E, Cassar D, Calleja-Agius J

Neonatal network : NN 2017; (36(3)):129-133 doi:10.1891/0730-0832.36.3.129.

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

Mussa A, Molinatto C, Cerrato F, et al.

Pediatrics 2017; (140(1)) doi:10.1542/peds.2016-4311.

Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2.

Kim SY, Jung SH, Kim MS, et al.

Oncotarget 2017; (8(54)):91950-91957 doi:10.18632/oncotarget.20515.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Brioude F, Kalish JM, Mussa A, et al.

Nature reviews. Endocrinology 2018; (14(4)):229-249 doi:10.1038/nrendo.2017.166.

Beckwith-Wiedemann Syndrome: Open bite evolution after tongue reduction.

Alonso-Rodriguez E, Gómez E, Martín M, et al.

Medicina oral, patologia oral y cirugia bucal 2018; (23(2)):e225-e229 doi:10.4317/medoral.21319.

18F-FDG PET/CT for Molecular Imaging of Hepatoblastoma in Beckwith-Wiedemann Syndrome.

Derlin T, Hartung D, Hueper K

Clinical nuclear medicine 2018; (43(5)):e164-e165 doi:10.1097/RLU.0000000000002040.

Surgical Outcomes of Patients with Beckwith-Wiedemann Syndrome.

Style CC, Cruz SM, Lau PE, et al.

Journal of pediatric surgery 2018; (53(5)):1042-1045 doi:10.1016/j.jpedsurg.2018.02.041.

[Surgical treatment of macroglossia in Beckwith-Wiedemann syndrome: case report].

Roa Rojas P, Arango Fernández H, Rebolledo Cobos M, Harris Ricardo J

Archivos argentinos de pediatria 2018; (116(2)):e341-e345 doi:10.5546/aap.2018.e341.

[Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement].

Elbracht M, Prawitt D, Nemetschek R, et al.

Klinische Padiatrie 2018; (230(3)):151-159 doi:10.1055/a-0591-9479.

Genetic characteristics of patients with congenital hyperinsulinism.

Vajravelu ME, De León DD

Current opinion in pediatrics 2018; (30(4)):568-575 doi:10.1097/MOP.0000000000000645.

Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor.

MacFarland SP, Duffy KA, Bhatti TR, et al.

Pediatric blood & cancer 2018; (65(10)):e27296 doi:10.1002/pbc.27296.

Tongue Reduction Surgery and Feeding Difficulties in Infants With Beckwith Wiedemann Syndrome: A Case Series.

Prendeville N, Sell D

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2019; (56(5)):679-689 doi:10.1177/1055665618794070.

Beckwith-Wiedemann syndrome: clinical and etiopathogenic aspects of a model genomic imprinting entity.

Cammarata-Scalisi F, Avendaño A, Stock F, et al.

Archivos argentinos de pediatria 2018; (116(5)):368-373 doi:10.5546/aap.2018.eng.368.

Improved Quality of Life for Children With Beckwith-Wiedemann Syndrome Following Tongue Reduction Surgery.

Harada T, Yamanishi T, Kurimoto T, Nishio J

The Journal of craniofacial surgery 2019; (30(1)):163-166 doi:10.1097/SCS.0000000000004823.

Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome.

Kim EN, Song DE, Yoon HM, et al.

Journal of pathology and translational medicine 2019; (53(2)):129-135 doi:10.4132/jptm.2018.11.13.

Association of four imprinting disorders and ART.

Hattori H, Hiura H, Kitamura A, et al.

Clinical epigenetics 2019; (11(1)):21 doi:10.1186/s13148-019-0623-3.

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment.

Beygo J, Bürger J, Strom TM, et al.

European journal of human genetics : EJHG 2019; (27(6)):903-908 doi:10.1038/s41431-019-0365-x.

Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome.

Shieh HF, Estroff JA, Barnewolt CE, et al.

Prenatal diagnosis 2019; (39(9)):792-795 doi:10.1002/pd.5440.

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.

Mackay DJG, Bliek J, Lombardi MP, et al.

Genetics research 2019; (101()):e3 doi:10.1017/S001667231900003X.

Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.

Bilgin B, Kabaçam S, Taşkıran E, et al.

The Turkish journal of pediatrics 2018; (60(5)):506-513.

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.

Gazzin A, Carli D, Sirchia F, et al.

American journal of medical genetics. Part A 2019; (179(9)):1691-1702 doi:10.1002/ajmg.a.61301.

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.

The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum.

Mussa A, Duffy KA, Carli D, et al.

Journal of cancer research and clinical oncology 2019; (145(12)):3115-3123 doi:10.1007/s00432-019-03038-3.

Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome.

Urzua A, Burattini S, Pinochet C, et al.

Journal of pediatric genetics 2019; (8(4)):226-230 doi:10.1055/s-0039-1692197.

Adrenocortical adenoma in a Sudanese girl with Beckwith-Wiedemann syndrome.

Elnaw EAA, Abdalla AR, Abdullah MA

International journal of pediatric endocrinology 2019; (2019()):6 doi:10.1186/s13633-019-0068-7.

Diagnosis and Management of Beckwith-Wiedemann Syndrome.

Wang KH, Kupa J, Duffy KA, Kalish JM

Frontiers in pediatrics 2019; (7()):562 doi:10.3389/fped.2019.00562.

Necrotizing enterocolitis following diazoxide therapy for persistent neonatal hypoglycemia.

Theodorou CM, Hirose S

Journal of pediatric surgery case reports 2020; (52()) doi:10.1016/j.epsc.2019.101356.

Rare association of Beckwith-Wiedemann syndrome with Hirschsprung's disease in an infant with hypoglycemia.

Shah N, Khadilkar A, Khadilkar V, Lad S

BMJ case reports 2020; (13(4)) doi:10.1136/bcr-2020-235121.

Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.

Wang R, Xiao Y, Li D, et al.

Italian journal of pediatrics 2020; (46(1)):55 doi:10.1186/s13052-020-0819-3.

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.

Baker SW, Duffy KA, Richards-Yutz J, et al.

Journal of medical genetics 2021; (58(3)):178-184 doi:10.1136/jmedgenet-2019-106498.

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.

Cöktü S, Spix C, Kaiser M, et al.

British journal of cancer 2020; (123(4)):619-623 doi:10.1038/s41416-020-0911-x.

Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association?

Macchiaiolo M, Markowich AH, Diociaiuti A, et al.

American journal of medical genetics. Part A 2020; (182(8)):1972-1976 doi:10.1002/ajmg.a.61718.

Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.

Tung JY, Lai SHY, Au SLK, et al.

International journal of pediatric endocrinology 2020; (2020()):13 doi:10.1186/s13633-020-00083-5.

Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith-Wiedemann Syndrome: A Case Report and Review of the Literature.

Ahlers CG, Trinh QH, Montenovo M

Case reports in genetics 2020; (2020()):8811296 doi:10.1155/2020/8811296.

Macroglossia in Beckwith-Wiedemann Syndrome Is Attributed to Skeletal Muscle Hyperplasia.

Oyama Y, Nishida H, Kobayashi O, et al.

Case reports in dentistry 2020; (2020()):8871961 doi:10.1155/2020/8871961.

Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment.

Liu EK, Suson KD

Translational andrology and urology 2020; (9(5)):2370-2381 doi:10.21037/tau.2020.03.27.

Omphalocele-What should we tell the prospective parents?

Adams AD, Stover S, Rac MW

Prenatal diagnosis 2021; (41(4)):486-496 doi:10.1002/pd.5886.

Reduction Glossectomy for Macroglossia in Beckwith-Wiedemann Syndrome: Is Post-Op Intubation Necessary?

Geisler EL, Jeffers J, Salhi S, Perlyn CA

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2022; (59(1)):126-131 doi:10.1177/1055665621991739.

Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum.

Tüysüz B, Güneş N, Geyik F, et al.

American journal of medical genetics. Part A 2021; (185(6)):1721-1731 doi:10.1002/ajmg.a.62158.

Fibroepithelial Breast Tumors in a Teenager with Beckwith-Wiedemann Syndrome: A Case Report and Review of Literature.

Oktay A, Esmat HA, Aslan Ö

European journal of breast health 2021; (17(3)):288-291 doi:10.4274/ejbh.galenos.2021.6271.

Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.

Sassi H, Elaribi Y, Jilani H, et al.

Molecular genetics & genomic medicine 2021; (9(10)):e1796 doi:10.1002/mgg3.1796.

Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.

Duffy KA, Hathaway ER, Klein SD, et al.

Cold Spring Harbor molecular case studies 2021; (7(6)) doi:10.1101/mcs.a006115.

Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith-Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population.

Duffy KA, Getz KD, Hathaway ER, et al.

Genes 2021; (12(11)) doi:10.3390/genes12111839.

Glioblastoma in Beckwith-Wiedemann syndrome: first case report and review of potential pathomechanisms.

Weir P, Kumaria A, Mohmed A, et al.

Acta neurochirurgica 2022; (164(2)):419-422 doi:10.1007/s00701-021-05105-6.

Molecular Basis of Beckwith-Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice.

Eggermann T, Maher ER, Kratz CP, Prawitt D

Cancers 2022; (14(13)) doi:10.3390/cancers14133083.

[Tumor predisposition syndromes and nephroblastoma : Early diagnosis with imaging].

Welter N, Furtwängler R, Schneider G, et al.

Radiologie (Heidelberg, Germany) 2022; (62(12)):1033-1042 doi:10.1007/s00117-022-01056-w.

Partial Glossectomy Combined With Radiofrequency Ablation for Macroglossia in Beckwith-Wiedemann Syndrome.

Lan D, Gao X, Zhang S, et al.

The Journal of craniofacial surgery 2023; (34(2)):650-655 doi:10.1097/SCS.0000000000009018.

Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith-Wiedemann syndrome: A case report.

McElroy TD, Duffy KA, Hathaway ER, et al.

American journal of medical genetics. Part A 2023; (191(4)):1107-1110 doi:10.1002/ajmg.a.63114.

Concurrent Hepatoblastoma and Wilms Tumor Leading to Diagnosis of Beckwith-Wiedemann Syndrome.

Wolfe DM, Webster Carrion A, Masukhani MM, et al.

Journal of pediatric hematology/oncology 2023; (45(4)):e525-e529 doi:10.1097/MPH.0000000000002593.

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.

Luca M, Carli D, Cardaropoli S, et al.

Cancers 2023; (15(3)) doi:10.3390/cancers15030773.

Beckwith-Wiedemann syndrome in a child with multifocal Wilms tumor and lateralized overgrowth: A case report.

Hailu SS, Zewdneh D, Hailu D, Hailemariam T

Radiology case reports 2023; (18(9)):2966-2970 doi:10.1016/j.radcr.2023.06.025.

Associations between the timing of tongue reduction surgery, (Epi)genotype, and dentoskeletal development in patients with Beckwith-Wiedemann syndrome.

Wagner CS, Pontell ME, Barrero CE, et al.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 2023; (51(9)):568-573 doi:10.1016/j.jcms.2023.07.006.

Introduction to the Beckwith-Wiedemann Syndrome and Cancer Special Issue.

Mussa A, Kalish JM

Cancers 2023; (15(20)) doi:10.3390/cancers15204939.

Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening.

Martins JMES, Braga BL, Sampaio KNF, et al.

Archives of endocrinology and metabolism 2024; (68()):e220395.

Evaluation of keyhole-pattern reduction glossoplasty for macroglossia in beckwith-wiedemann syndrome: A multidimensional analysis of postoperative course and outcomes.

Şimşekcan E, Sert G, Calis M, Özgür F

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 2024; (52(5)):591-597 doi:10.1016/j.jcms.2024.02.019.

Effective Collaboration in the Surgical Management of Macroglossia in Beckwith-Wiedemann Syndrome.

Binhezaim A, Al Qurashi AA, Alissa S, Alyazeedi IA

Plastic and reconstructive surgery. Global open 2024; (12(3)):e5635 doi:10.1097/GOX.0000000000005635.

Depression and Anxiety in Pediatric Patients with Beckwith-Wiedemann Syndrome: A Pilot Study.

D'Onofrio G, Mastromatteo A, Di Francesco A, et al.

Children (Basel, Switzerland) 2024; (11(3)) doi:10.3390/children11030342.

Expanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants.

George AM, Viswanathan A, Best LG, et al.

American journal of medical genetics. Part A 2024; (194(10)):e63777 doi:10.1002/ajmg.a.63777.

The Peripheral Reduction With Keyhole Tongue Reduction Technique for Macroglossia in Beckwith-Wiedemann Syndrome.

Romeo DJ, Massenburg BB, Wilson AT, et al.

The Journal of craniofacial surgery 2024; doi:10.1097/SCS.0000000000010621.

Bridging the Gaps: Multidisciplinary and Dental Strategies for Beckwith-Wiedemann Syndrome Management.

Sharma K, Jamdade A, Yadav SP, Aggarwal A

International journal of clinical pediatric dentistry 2024; (17(6)):702-705 doi:10.5005/jp-journals-10005-2873.

Hiding in Plain Sight: Radiologic and Pathologic Findings Can Identify Beckwith-Wiedemann Syndrome in Patients With Wilms Tumor.

Molina LM, Rao A, Meade J, et al.

Journal of pediatric hematology/oncology 2024; (46(8)):424-428 doi:10.1097/MPH.0000000000002951.

CDKN1C -Related Beckwith-Wiedemann Syndrome: First Patient from India.

Arora V, Takkar A, Dubey S, et al.

Journal of pediatric genetics 2024; (13(4)):330-334 doi:10.1055/s-0043-1764126.

Outcomes of Tongue Reduction Surgery in Beckwith-Wiedemann Syndrome: A Systematic Review.

Abraha B, MacIntyre O, Brennan H, et al.

The Journal of craniofacial surgery 2025; (36(2)):542-546 doi:10.1097/SCS.0000000000011045.

Conservative Management of Macroglossia in Beckwith-Wiedemann Syndrome.

Romeo DJ, Wagner CS, Banala M, et al.

Pediatrics 2025; (155(4)) doi:10.1542/peds.2024-068618.

Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith-Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region.

Urakawa T, Kanamaru Y, Amano N, et al.

Clinical epigenetics 2025; (17(1)):97 doi:10.1186/s13148-025-01907-y.

Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress Syndrome.

Al-Hinai AS, Al-Maawali A, Al-Kindi A, et al.

Oman medical journal 2025; (40(1)):e712 doi:10.5001/omj.2025.44.

[Beckwith-Wiedemann syndrome with ganglioneuroblastoma: a case report].

Tou JF, Feng CY, Xu B, Ye JJ

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2025; (27(8)):1022-1026 doi:10.7499/j.issn.1008-8830.2502010.

(Epi)genotype-phenotype correlations of Beckwith-Wiedemann syndrome in China.

Lan D, Zhang S, Li J, et al.

Italian journal of pediatrics 2025; (51(1)):276 doi:10.1186/s13052-025-02122-4.

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

Russo S, Milani D, Meossi C, et al.

Italian journal of pediatrics 2025; (51(1)):287 doi:10.1186/s13052-025-02131-3.

Clinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score.

Çetinkaya D, Altan M, Kılıç E

Molecular syndromology 2025; (16(5)):436-441 doi:10.1159/000543374.

Determinants of Hyperinsulinism Severity in Children with Beckwith-Wiedemann Syndrome.

George AM, Viswanathan A, Sussman JH, et al.

The Journal of clinical endocrinology and metabolism 2026; doi:10.1210/clinem/dgag053.

Functional evaluation of pancreatic islets from patients with Beckwith-Wiedemann syndrome and congenital hyperinsulinism.

Juliana CA, Li C, Chai J, et al.

The Journal of clinical endocrinology and metabolism 2026; doi:10.1210/clinem/dgag050.