About 843 results

ALLMedicine™ Beckwith-Wiedemann Syndrome Center

Research & Reviews  323 results

Concurrent Hepatoblastoma and Wilms Tumor Leading to Diagnosis of Beckwith-Wiedemann Sy...
Journal of Pediatric Hematology/oncology; Wolfe DM, Webster Carrion A et. al.

Feb 3rd, 2023 - Beckwith-Wiedemann syndrome (BWS) is an epigenetic overgrowth disorder and cancer predisposition syndrome caused by imprinting defects of chromosome 11p15.5-11p15.4. BWS should be considered in children with atypical presentations of embryonal tum...

FLCN-Driven Functional Adrenal Cortical Carcinoma with High Mitotic Tumor Grade: Extend...
Endocrine Pathology; Hofstedter R, Sanabria-Salas MC et. al.

Jan 27th, 2023 - Adrenal cortical carcinoma is an aggressive and rare malignancy of steroidogenic cells of the adrenal gland. Most adult adrenal cortical carcinomas are sporadic, but a small fraction may be associated with inherited tumor syndromes, such as Li-Fra...

Beckwith-Widemann Macroglossia: The Role of Surgical Tongue Reduction.
The Cleft Palate-craniofacial Journal : Official Publicat... Marsh JL, Perlyn CA

Jan 24th, 2023 - Objective: This review was conducted to define the natural history of unoperated Beckwith-Wiedemann syndrome (BWS) macroglossia and the effect of tongue reduction surgery upon breathing, eating, speaking and dentoskeletal development in individual...

Turner syndrome-omphalocele association: Incidence, karyotype, phenotype and fetal outc...
Prenatal Diagnosis; Bedei I, Gloning KP et. al.

Jan 6th, 2023 - Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith-Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this assoc...

Mosaic genome-wide paternal uniparental disomy after discordant results from primary fe...
American Journal of Medical Genetics. Part A; Mastromoro G, Guadagnolo D et. al.

Jan 5th, 2023 - Mosaic genome-wide paternal uniparental disomy (GWpUPD) is a rare condition in which two euploid cell lines coexist in the same individual, one with biparental content and one with genome-wide paternal isodisomy. We report a complex prenatal diagn...

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Clinicaltrials.gov  3 results

Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor

Mar 25th, 2022 - OBJECTIVES: I. To improve 4-year event-free survival (EFS) to 73% for young patients with bilateral Wilms tumor (BWT). II. To prevent complete removal of at least one kidney in 50% of patients with BWT by using prenephrectomy 3-drug chemotherapy i...

Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development

Aug 6th, 2021 - Background and Rationale Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve alterations in dimensions of the whole body or of specific body parts. SS is characterized by advanced bone age, m...

Hepatoblastoma Biology Study and Tissue Bank

Nov 26th, 2013 - COG 9346 - Lay Summary Hepatoblastoma Biology Study and Tissue Bank Although tremendous improvement in the treatment of childhood cancer has resulted from the use of clinical trials, it is clear that additional significant progress will require a ...

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News  5 results

With Sleuth Work, Pediatricians Can Identify Genetic Disorders

Oct 7th, 2022 - Jennifer Kalish, MD, PhD, fields as many as 10 inquiries a month from pediatricians who spot an unusual feature during a clinical exam, and wonder if they should refer the family to a geneticist.  "There are hundreds of rare disorders, and for a p...

NCCN Issues First-Ever Guidance for Pediatric Solid Tumor

Oct 6th, 2021 - The National Comprehensive Cancer Network (NCCN) has issued guidelines for the management of children with a rare type of kidney cancer referred to as Wilms Tumor, or nephroblastoma.1 The document highlights evidence-based recommendations for how...

Chondrodermatitis Nodularis Helicis in an Adolescent Boy: Not Just for Old Men
Larisa M. Lehmer, MD, Victoria M. Roseman et. al.

Nov 11th, 2019 - Chondrodermatitis nodularis helicis (CNH) is a chronic painful or crusted, 4- to 6-mm, solitary nodule, primarily on the upper part of the ear (most commonly on the right side). The presence of pain, which increases the likelihood that a person wi.

Preliminary analysis confirms birth defect-cancer association
Sharon Worcester

Apr 18th, 2015 - BIRMINGHAM, ALA. – Children with birth defects have been shown to have an increased risk of developing cancer, and preliminary findings from a large record-linkage study not only confirm and better define the risk, but also demonstrate the value o.

Assisted Reproduction Linked to Rare Genetic Disorder

Jan 15th, 2003 - Jan. 15, 2003 -- Preliminary findings from two recent studies indicate that the process of assisted reproduction can cause the genetic disruption associated with the disorder Beckwith-Wiedemann syndrome (BWS). New research from the U.K., published...

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Patient Education  6 results see all →