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1,640 Possible Causes for Beckwith-Wiedemann Syndrome

  • Hepatoblastoma

    Abstract Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder variably characterized by macrosomia, macroglossia, congenital hypoglycemia, and hemihyperplasia[ncbi.nlm.nih.gov] Hepatoblastoma is a tumour of early childhood occurring in association with genetic syndromes including Beckwith-Wiedemann Syndrome (BWS) which results from dominance of paternally-inherited[ncbi.nlm.nih.gov] The etiology of HBL is largely unknown but there are certain syndromes, such as Beckwith-Wiedemann syndrome, that have been clearly associated with an increased incidence[ncbi.nlm.nih.gov]

  • Rhabdomyosarcoma

    Key words: 11p15, alveolar rhabdomyosarcoma, Beckwith-Wiedemann syndrome, cancer This is a preview of subscription content, log in to check access.[doi.org] Genetic conditions associated with high risk of childhood RMS include Li-Fraumeni syndrome, pleuropulmonary blastoma, Beckwith-Wiedemann syndrome, and some RASopathies, such[ncbi.nlm.nih.gov] This is comparable to the 7-21% frequency of solid tumors in Beckwith-Wiedemann syndrome (BWS), and may justify tumor screening.[ncbi.nlm.nih.gov]

  • Pancreatoblastoma

    Three other examples of this association, congenital pancreatoblastoma and Beckwith-Wiedemann syndrome, all in males, are on record in the literature, indicating a strong[ncbi.nlm.nih.gov] Antenatal detection of an isolated abdominal cyst was found to be a pancreatoblastoma in a female fetus with Beckwith-Wiedemann syndrome.[ncbi.nlm.nih.gov] Six other examples of this association, PB, and Beckwith-Wiedemann syndrome are recorded in the literature.[ncbi.nlm.nih.gov]

  • Hemangioma

    Adult laryngeal hemangiomas are uncommon and often poorly symptomatic. The authors describe a laryngeal hemangioma with acute airway obstruction and radiologic findings suggesting a chondrosarcoma-like neoplasm, while pathologic features were consistent with an ossified hemangioma. The presence of fields of bone[…][ncbi.nlm.nih.gov]

  • Nephroblastoma

    Beckwith-Wiedemann syndrome occurs in approximately 1 in 13,700 individuals.[invitae.com] syndrome is characterized by a number of genito-urinary abnormalities and is caused by a germline defect in the WT1 gene Beckwith-Wiedemann Syndrome: Beckwith-Wiedemann Syndrome[pathwaymedicine.org] .: Clinical utility gene card for: Beckwith-Wiedemann Syndrome.[ncbi.nlm.nih.gov]

  • Down Syndrome

    The patient has Beckwith-Wiedemann syndrome (BWS) due to paternal uniparental disomy (UPD) at chromosome location 11p15 (UPD 11p15), which was confirmed through methylation[ncbi.nlm.nih.gov]

  • Neurofibroma

    Neurofibromas are benign nerve sheath tumors that usually affect peripheral nerves and are related to neurofibromatosis type 1; however, they have not been described as a cause of intraparenchymal brain tumor. We report a case of intracranial myxoid neurofibroma in a 19-year-old female patient manifested as an[…][ncbi.nlm.nih.gov]

  • Alveolar Rhabdomyosarcoma

    KEYWORDS: Beckwith-Wiedemann syndrome; Blueberry muffin syndrome; CDKN1C; Congenital alveolar rhabdomyosarcoma[ncbi.nlm.nih.gov] Abstract We report a rare case of neonatal Beckwith-Wiedemann syndrome (BWS) associated with alveolar rhabdomyosarcoma (RMS).[ncbi.nlm.nih.gov] Key words: 11p15, alveolar rhabdomyosarcoma, Beckwith-Wiedemann syndrome, cancer This is a preview of subscription content, log in to check access.[link.springer.com]

  • Lymphangioma

    Lymphangiomas develop in the head, neck, and axilla of patients 2 years old in more than 90% of cases. They are rarely reported in adults. Here, we report on a 37-year-old woman with a firm, hypoechoic 3.3 cm mass in the right upper, outer quadrant of the breast with discomfort, and swelling of the right axillary[…][ncbi.nlm.nih.gov]

  • Glycogen Storage Disease Type 2

    Abstract: Glycogenosis II (GSDII) is an autosomal recessive lysosomal storage disorder resulting from acid alpha-glucosidase (GAA) deficiency, subsequent lysosomal accumulation of glycogen in muscles, impairment of autophagic processes and progressive cardiac, motor and respiratory failure. The infantile form usually[…][eurekaselect.com]

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