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Publications
Stay tuned for new research! We will share highlights from the Deciphering Beckwith-Wiedemann Spectrum Virtual Conference (July 24 and July 25, 2021). Updates to this page are in process.
The publications listed below include a link to the official abstract and a family summary. Developed for patients, families, and physicians, the family summaries provide a brief overview of each publication including background information, overall purpose, key findings, and conclusions.
October, 2019
The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum
Mussa, A., Duffy, K. A., Carli, D., Griff, J. R., Fagiano, R., Kupa, J., Brodeur, G. M., Ferrero, G. B., & Kalish, J. M. (2019). The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum. J Cancer Res Clin Oncol, 145(12), 3115-3123. doi:10.1007/s00432-019-03038-3
This study evaluated the ages at Wilms tumor (WT) development in patients with BWS compared to the ages at WT development in patients without BWS to determine whether screening until age 7 years is sufficient. The stage of WT at time of diagnosis was compared between patients with BWS diagnosed through screening and those who were not screened.
Read the family summary.
August, 2019
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management
Duffy, K. A., Cielo, C. M., Cohen, J. L., Gonzalez-Gandolfi, C. X., Griff, J. R., Hathaway, E. R., Kupa, J., Taylor, J. A., Wang, K. H., Ganguly, A., Deardorff, M. A., & Kalish, J. M. (2019). Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management. Am J Med Genet C Semin Med Genet. doi:10.1002/ajmg.c.31740
Due to the variation in presentation among patients with Beckwith-Wiedemann syndrome (BWS), an international consensus redefined BWS as “Beckwith-Wiedemann Spectrum (BWSp).” This study evaluated clinical features and molecular testing results among patients with BWSp.
*Family summary in progress*
September, 2019
Development of the Serum α-Fetoprotein Reference Range in Patients with Beckwith-Wiedemann Spectrum
Duffy, K. A., Cohen, J. L., Elci, O. U., & Kalish, J. M. (2019). Development of the Serum alpha-Fetoprotein Reference Range in Patients with Beckwith-Wiedemann Spectrum. J Pediatr, 212, 195-200 e192. doi:10.1016/j.jpeds.2019.05.051
This study evaluated alpha-fetoprotein (AFP) values of patients with Beckwith-Wiedemann Spectrum (BWSp) and created reference ranges to help with interpretation of values.
Read the family summary.
September, 2019
Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome
Li, Y., Hagen, D. E., Ji, T., Bakhtiarizadeh, M. R., Frederic, W. M., Traxler, E. M., Kalish, J. M., & Rivera, R. M. (2019). Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome. Epigenetics, 14(9), 850-876. doi:10.1080/15592294.2019.1615357
This article evaluated whether microRNA (miRNA) expression is dysregulated in a cow animal model of BWS (Large Offspring Syndrome (LOS)) and compared with miRNA expression in patients with Beckwith-Wiedemann Syndrome (BWS).
Read the family summary.
July, 2019
Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome
Cohen, Jennifer L., Duffy, Kelly A., Sajorda, Brian J., Hathaway, Evan R., Gonzalez-Gandolfi, Christina X., Richards-Yutz, Jennifer, Gunter, Andrew T., Ganguly, Arupa, Kaplan, Julie, Deardorff, Matthew A., & Kalish, Jennifer M. (2019). Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome. American Journal of Medical Genetics Part A, 0(0). doi:10.1002/ajmg.a.61164
This study evaluated the clinical features in twins with Beckwith-Wiedemann Syndrome (BWS) and level of discordance (dissimilarity) between patients from the same pregnancy. An algorithm to diagnose and manage twins with BWS was proposed.
Read the family summary.
April, 2019
Beckwith-Wiedemann syndrome in diverse populations
Duffy, Kelly A., Sajorda, Brian J., Yu, Alice C., Hathaway, Evan R., Grand, Katheryn L., Deardorff, Matthew A., & Kalish, Jennifer M. (2019). Beckwith–Wiedemann syndrome in diverse populations. American Journal of Medical Genetics Part A, 179(4), 525-533. doi:10.1002/ajmg.a.61053
This study evaluated the presence of clinical features and molecular subtypes within racial and ethnic groups of patients with Beckwith-Wiedemann Syndrome (BWS).
Read the family summary.
March, 2019
Obstructive sleep apnea in children with Beckwith-Wiedemann syndrome
Cielo, C. M., Duffy, K. A., Taylor, J. A., Marcus, C. L., & Kalish, J. M. (2019). Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome. J Clin Sleep Med, 15(3), 375-381. doi:10.5664/jcsm.7656
This study evaluated the prevalence of obstructive sleep apnea (OSA) in patients with Beckwith-Wiedemann Syndrome (BWS) treated at Children’s Hospital of Philadelphia (CHOP). All patients underwent a complete evaluation by genetics, plastic surgery, and pulmonology, and all had a sleep study (polysomnogram).
Read the family summary.
January, 2019
Mussa, A., Duffy, K. A., Carli, D., Ferrero, G. B., & Kalish, J. M. (2019). Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome. Pediatr Blood Cancer, 66(1), e27492. doi:10.1002/pbc.27492
This study evaluated the ages at hepatoblastoma (HB) development in patients with Beckwith-Wiedemann Syndrome (BWS) compared to the ages at HB development in patients without BWS to determine the optimal length of time to screen for HB in children with BWS.
Read the family summary.
May, 2018
Diagnosis of Beckwith-Wiedemann Syndrome in children presenting with Wilms Tumor
MacFarland, S. P., Duffy, K. A., Bhatti, T. R., Bagatell, R., Balamuth, N. J., Brodeur, G. M., Ganguly, A., Mattei, P. A., Surrey, L. F., Balis, F. M., & Kalish, J. M. (2018). Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor. Pediatr Blood Cancer, 65(10), e27296. doi:10.1002/pbc.27296
This study describes 12 patients who first presented with Wilms tumors (WT) and were subsequently diagnosed with Beckwith-Wiedemann Syndrome (BWS).
Read the family summary.
March, 2018
Beckwith-Wiedemann Syndrome: Partnership in the Diagnostic Journey of a Rare Disorder
Davlin, A. S., Clarkin, C. M., & Kalish, J. M. (2018). Beckwith-Wiedemann Syndrome: Partnership in the Diagnostic Journey of a Rare Disorder. Pediatrics. doi:10.1542/peds.2017-0475
This article discussed the doctor-patient relationship through commentary from two mothers of a child with BWS and a physician.
January, 2018
Cielo, C. M., Duffy, K. A., Vyas, A., Taylor, J. A., & Kalish, J. M. (2018). Obstructive sleep apnea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome. Paediatr Respir Rev, 25, 58-63. doi:10.1016/j.prrv.2017.02.003
This article reviews all available evidence regarding children with Beckwith-Wiedemann Syndrome (BWS) and macroglossia. The prevalence of obstructive sleep apnea (OSA) and management strategies in this population are discussed.
Read the family summary.
August, 2017
Management of adrenal masses in patients with Beckwith-Wiedemann syndrome
MacFarland, S. P., Mostoufi-Moab, S., Zelley, K., Mattei, P. A., States, L. J., Bhatti, T. R., Duffy, K. A., Brodeur, G. M., & Kalish, J. M. (2017). Management of adrenal masses in patients with Beckwith-Wiedemann syndrome. Pediatr Blood Cancer, 64(8). doi:10.1002/pbc.26432
This study proposes guidelines for evaluating adrenal masses detected in patients with Beckwith-Wiedemann Syndrome (BWS). A literature search was performed to identify all reported cases of patients with BWS and adrenal findings and reviewed in patients with BWS and adrenal findings treated at Children’s Hospital of Philadelphia (CHOP).
Read the family summary.
August, 2017
Tumor screening in Beckwith-Wiedemann syndrome: parental perspectives
Duffy, K. A., Grand, K. L., Zelley, K., & Kalish, J. M. (2017). Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives. J Genet Couns. doi:10.1007/s10897-017-0182-8
This study aimed to identify how parents of children with Beckwith-Wiedemann Syndrome (BWS) or isolated hemihypertrophy/hemihyperplasia (now called isolated lateralized overgrowth (ILO)) felt about tumor screening protocols. This was the first study that directly asked parents of children with BWS or ILO about their perspective on tumor screening.
Read the family summary.
July, 2017
Nomenclature and definition in asymmetric regional body overgrowth
Kalish, J. M., Biesecker, L. G., Brioude, F., Deardorff, M. A., Di Cesare-Merlone, A., Druley, T., Ferrero, G. B., Lapunzina, P., Larizza, L., Maas, S., Macchiaiolo, M., Maher, E. R., Maitz, S., Martinez-Agosto, J. A., Mussa, A., Robinson, P., Russo, S., Selicorni, A., & Hennekam, R. C. (2017). Nomenclature and definition in asymmetric regional body overgrowth. Am J Med Genet A. doi:10.1002/ajmg.a.38266
This study defines and uses the term “isolated lateralized overgrowth” (ILO) in place of previously used terms: “isolated hemihypertrophy” and “isolated hemihyperplasia.” These terms are defined as asymmetry in the body because of overgrowth in individuals without any other underlying diagnosis.
Read the family summary.
March, 2017
The utility of Alpha-Fetoprotein screening in Beckwith-Wiedemann syndrome
Duffy, K. A., Deardorff, M. A., & Kalish, J. M. (2017). The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome. Am J Med Genet A, 173(3), 581-584. doi:10.1002/ajmg.a.38068
This invited commentary discusses the usefulness of AFP screening for hepatoblastoma detection as well as hepatoblastoma tumor screening in patients with BWS due to IC2 LOM.
Read the family summary.
September, 2016
Tumor screening in Beckwith-Wiedemann syndrome- To screen or not to screen?
Kalish, J. M., & Deardorff, M. A. (2016). Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen? Am J Med Genet A, 170(9), 2261-2264. doi:10.1002/ajmg.a.37881
There are many challenges to changing tumor screening protocols. This invited commentary discusses some of the related challenges and proposes to continue uniform screening for all patients with Beckwith-Wiedemann Syndrome (BWS).
Read the family summary.
March, 2016
Ginart, P., Kalish, J. M., Jiang, C. L., Yu, A. C., Bartolomei, M. S., & Raj, A. (2016). Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant. Genes Dev, 30(5), 567-578. doi:10.1101/gad.275958.115
This study evaluated what happens at the level of the individual cell in a mouse model of imprinting disorders. Specifically, whether imprinting is altered in every cell a little bit or altered completely in some cells and normal in other cells resulting in mosaicism.
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January, 2016
Kalish, J. M., Boodhansingh, K. E., Bhatti, T. R., Ganguly, A., Conlin, L. K., Becker, S. A., Givler, S., Mighion, L., Palladino, A. A., Adzick, N. S., De Leon, D. D., Stanley, C. A., & Deardorff, M. A. (2016). Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. J Med Genet, 53(1), 53-61. doi:10.1136/jmedgenet-2015-103394
This study describes 28 children diagnosed with hyperinsulinism (HI) and BWS. The clinical features of the patients, medical management, and molecular causes of HI were evaluated.
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May, 2013
Kalish, J. M., Conlin, L. K., Mostoufi-Moab, S., Wilkens, A. B., Mulchandani, S., Zelley, K., Kowalski, M., Bhatti, T. R., Russo, P., Mattei, P., Mackenzie, W. G., LiVolsi, V., Nichols, K. E., Biegel, J. A., Spinner, N. B., & Deardorff, M. A. (2013). Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. Am J Med Genet A, 161A(5), 993-1001. doi:10.1002/ajmg.a.35831
This study demonstrated that single-nucleotide polymorphism (SNP) array analysis is a sensitive test for detecting mosaicism in patients with Beckwith-Wiedemann syndrome (BWS) due to uniparental isodisomy (UPD).
Read the family summary.