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Beckwith-Wiedemann Syndrome 

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  1. Open Access 01-12-2023 | Hemangioma | OriginalPaper

    Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature

    Beckwith-Wiedemann syndrome (BWS) is the most common genetic overgrowth disorder, with an estimated prevalence of 1:10000 live births [ 1 ]. The association between the syndrome and twins, where the incidence is significantly increased [ 2 ] up to …

  2. 01-02-2022 | Glioblastoma | OriginalPaper

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

    Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth syndrome associated with certain childhood tumours. We present the case of a 36-year-old lady with BWS who developed a left frontoinsular secondary glioblastoma. This is the first …

  3. Open Access 01-12-2020 | Diastasis Recti | OriginalPaper

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

    Beckwith-Wiedemann syndrome (BWS, OMIM#130650), first reported by Beckwith JB and Wiedemann HR in the 1960s, is a rare genetic overgrowth disorder with variable clinical features and cancer predisposition [ 1 – 3 ]. The estimated incidence of BWS …

  4. Open Access 01-12-2019 | Computed Tomography | OriginalPaper

    Adrenocortical adenoma in a Sudanese girl with Beckwith-Wiedemann syndrome

    Beckwith-Wiedemann syndrome (BWS) is a pediatric overgrowth disorder involving a predisposition to tumor development (BWS, OMIM 130650). It has an estimated population incidence of 1 in 13,700. It results from several genetic mechanisms that lead …

  5. Open Access 01-12-2019 | Ultrasound | OriginalPaper

    Unilateral testicular enlargement in a teenager with Beckwith-Wiedemann syndrome: a case report

    Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder with heterogeneous genetic background and variable phenotypic expression, more recently defined as Beckwith-Wiedemann Spectrum (BWSp) [ 1 ]. The condition usually results from …

  6. 01-03-2020 | Beckwith-Wiedemann Syndrome | OriginalPaper

    Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases

    Beckwith-Wiedemann Syndrome (BWS) is a well described overgrowth syndrome with an estimated incidence of 1 in 10,000 to 13,700 births [ 1 , 2 ]. Although the clinical presentation is variable, classically, these patients have macrosomia …

  7. 01-08-2018 | OriginalPaper

    Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives

    Children with Beckwith-Wiedemann Syndrome (BWS) and Isolated Hemihypertrophy (IHH) are at an increased risk for developing tumors. Tumor screening in this population is currently being reassessed by several groups and the effect on patients and …

  8. 01-06-2018 | OriginalPaper

    Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome

    In the USA, approximately 1–3% of births involve the use of assisted reproductive technology (ART). In 2002, Cox et al. [ 1 ] reported two Angelman syndrome (AS) patients from their clinic who happened to be born of pregnancies conceived by …

  9. 01-06-2017 | OriginalPaper

    Spinal adrenal cortical adenoma associated with Beckwith-Wiedemann syndrome: case report and review of the literature

    Adenomas are benign epithelial neoplasms that are derived from glands. Adrenal cortical adenomas are endocrine in nature and may be functioning or non-functioning [ 1 ]. The majority of cases of ectopic adrenocortical tissue are found along the …

  10. 01-12-2016 | BriefCommunication

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

    The Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by somatic overgrowth and predisposition to embryonal tumors, such as Wilm’s tumor, hepatoblastoma, neuroblastoma and rhabdomyosarcoma (RMS). BWS is associated with various …

  11. 01-12-2000 | OriginalPaper

    Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome

    We report the association of Beckwith-Wiedemann syndrome (BWS) and a residual acid sphingomyelinase (ASM) activity of about 35% in a 23 months old Hungarian boy. Besides the classical triad of exomphalos, macroglossia and gigantism some other …

  12. Open Access 01-10-2013 | BriefCommunication

    Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome

  13. 01-06-2005 | OriginalPaper

    Beckwith-Wiedemann Syndrome: Historical, Clinicopathological, and Etiopathogenetic Perspectives

    Macroglossia, prenatal or postnatal overgrowth, and abdominal wall defects (omphalocele, umbilical hernia, or diastasis recti) permit early recognition of Beckwith-Wiedemann syndrome. Complications include neonatal hypoglycemia and an increased …

  14. 01-07-1997 | OriginalPaper

    Enlarging giant liver cyst in Beckwith-Wiedemann syndrome

  15. 01-04-2003 | OriginalPaper

    Hepatoblastoma associated with Beckwith-Wiedemann syndrome and hemihypertrophy

    Both Beckwith-Wiedemann syndrome (BWS) and hemihypertrophy (HH) have been recognized to be overgrowth syndromes associated with an increased risk of cancer. We report an infant with hepatoblastoma associated with both BWS and HH in whom high serum …

  16. Open Access 01-12-2015 | BriefCommunication

    Pseudohypoparathyroidism type 1a with hypomethylation at the responsible differentially methylated region for Beckwith-Wiedemann syndrome

    It was previously reported that several patients with pseudohypoparathyroidism type 1b (PHP-1b) have a more generalised imprinting defect. However there was no report that a patient of PHP-1a has any generalised imprinting defects. Here we aim to …

  17. 01-11-2001 | OriginalPaper

    Association of Alveolar Rhabdomyosarcoma with the Beckwith-Wiedemann Syndrome

    Rhabdomyosarcoma (RMS) is a soft tissue tumor of childhood frequently diagnosed between the first and fifth year of life. Children with the Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth syndrome characterized by exomphalos …

  18. 01-02-2008 | BriefCommunication

    Anesthetic management of two cases of Beckwith-Wiedemann syndrome

    Two cases of children with Beckwith-Wiedemann syndrome are presented. This syndrome consists of various abnormalities, including macroglossia, visceromegaly, omphalocele, and gigantism. These abnormalities frequently require operative correction …

  19. 01-11-1998 | OriginalPaper

    Yolk Sac Tumor of the Placenta in Wiedemann-Beckwith Syndrome

    The present report describes an example of multifocal (two) yolk sac tumor (YST) with mesenchyme-like and enteroid patterns found in the placenta (730 g) of a newborn (4200 g) with Wiedemann-Beckwith syndrome (WBS) phenotype (macroglossia …

  20. 01-04-1997 | OriginalPaper

    Beckwith-Wiedemann syndrome and splenic hemangioma: report of a case

    Surveillance sonography is performed in Beckwith-Wiedemann syndrome because of the risk of malignant tumors. Benign neoplasms, although reportedly less common, also occur. A splenic hemangioma was found in a patient by routine sonography.

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