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1/28. Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-beckwith syndrome.

    "Genetic mosaicism" describes the presence of two or more populations of cells within a single individual that differ in their genomic constitution. Although the occurrence of asymmetric overgrowth in Wiedemann-Beckwith syndrome (WBS) suggests that mosaicism has some role in the WBS phenotype, no direct evidence for this has been published. WBS is a congenital overgrowth syndrome with variable phenotype linked to the imprinted gene cluster on chromosome region 11p15. We have performed a molecular survey of multiple organs and tissues in a case of WBS with a high degree of mosaic paternal 11p15 uniparental disomy (UPD). The organs most severely affected were those with the highest percentage of cells with UPD. In particular there was a striking difference in the degree of mosaicism for 11p15 UPD between the extremely enlarged left adrenal and non-enlarged right adrenal gland. This result indicates that the proportion of paternal 11p15 UPD cells correlates with the tissue phenotype of WBS. Our results suggest that high proportions of abnormal cells result from a combination of stochastic events and cell selection. mosaicism may explain the variable phenotypes including hemihyperplasia and predisposition to childhood cancers in WBS patients.
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2/28. beckwith-wiedemann syndrome and virilizing cortical adrenal tumor in a child.

    The authors report a case of a virilizing adrenal tumor that developed in a 2-year-old child with beckwith-wiedemann syndrome (BWS). He had a fetal diagnosis of omphalocele and a history of neonatal adrenal cysts. The importance of prenatal diagnosis of BWS and postnatal follow-up of tumors is discussed. The differential diagnosis of adrenal pathologies occurring in BWS also is reviewed.
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ranking = 3.5
keywords = adrenal
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3/28. Wiedemann-Beckwith syndrome: further prenatal characterization of the condition.

    We describe three unrelated cases of Wiedemann-Beckwith syndrome (WBS). Two of them were diagnosed postnatally while the third was detected during pregnancy that resulted in elective termination. Amniotic karyotypes were normal in all. PCR amplification of polymorphic loci mapping to 11p15.5 region documented partial trisomy of 11p15.5 due to paternal translocation in one, and segmental and mosaic segmental unipaternal disomy (UPD) in the second and third cases, respectively. Based on findings documented in these cases and the literature, we tabulated the anomalies that might be detected prenatally by ultrasound and that may suggest the syndrome. Constant findings included fetal overgrowth, polyhydramios, enlarged placenta, and specifically a distended abdomen. As most described signs developed after 22 weeks of gestation, a careful follow-up should be carried on until late stages of pregnancy. An amniotic karyotype might not detect subtle chromosomal rearrangements. We therefore recommend utilizing PCR of polymorphic loci on 11p15.5, in addition to conventional cytogenetic analysis of the fetus and both parents to detect possible maternal deletions or inversions, paternal duplications, and UPD that may account for the largest subset of sporadic WBS reaching 25% of cases. An early diagnosis of WBS is important for counseling the parents concerning potential risk for developing embryonic tumors, selection of the mode of delivery due to potential adrenal cysts that might bleed during labor, and prevention of neonatal hypoglycemia.
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4/28. Successful laparoscopic operation of bilateral pheochromocytoma in a patient with beckwith-wiedemann syndrome.

    We report the case of a 20-year-old female patient with beckwith-wiedemann syndrome presenting with high blood pressure and bilateral adrenal pheochromocytoma successfully removed with laparoscopy in the same time. To our knowledge, the present case is the first observation of a bilateral pheochromocytoma occurring in the beckwith-wiedemann syndrome. It provides further support for a genetic anomaly in this condition. Our case also indicates the interest of laparoscopy for the surgical treatment of adrenal pheochromocytoma, even in bilateral tumors.
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5/28. Bilateral benign haemorrhagic adrenal cysts in beckwith-wiedemann syndrome: case report.

    beckwith-wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, omphalocele and ear lobe anomalies. Among the associated adrenal anomalies, foetal cortical cytomegaly, outer cortical haemorrhage and unilateral benign cysts are well described. A term neonate was admitted with typical features of the syndrome. Radiological evaluation revealed a rare association of bilateral benign hamorrhagic adrenal cysts. Serial sonography confirmed hamorrhage into benign cysts and ruled out neoplasms. Only one similar case has been documented in the literature previously.
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ranking = 3
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6/28. Bilateral adrenal cysts and ectopic pancreatic tissue in beckwith-wiedemann syndrome: is a conservative approach acceptable?

    beckwith-wiedemann syndrome is a common overgrowth syndrome associated with an increased risk of neoplasias which might be explained by the nature and localization of the genetic defect. While malignant tumors are often associated with hemihypertrophy, benign tumors are also found. We report a patient with the typical features of beckwith-wiedemann syndrome with two histologically different abdominal tumors, bilateral cystic adrenals and ectopic pancreatic tissue present at birth. In both tumors no malignancy could be detected. Ectopic pancreatic tissue is rarely seen and has been described in beckwith-wiedemann syndrome only once. After extirpation of the ectopic pancreatic tissue the cystic adrenals were left in situ since macroscopically no normal adrenal tissue could be identified and separated. Regular ultrasound examinations revealed complete resolution of the cystic adrenals within 24 months. Thus it seems that a conservative approach in selected tumors associated with the beckwith-wiedemann syndrome might be acceptable.
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ranking = 4
keywords = adrenal
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7/28. Giant omphalocele and "prune belly" sequence as components of the beckwith-wiedemann syndrome.

    We report a case of severe beckwith-wiedemann syndrome (BWS) in a fetus at 16 weeks of gestation. This presentation, incompatible with life, included a giant omphalocele and absence of abdominal wall musculature with extremely dilated bladder, as in the "prune belly" sequence. Adrenal cytomegaly pointed to BWS. Molecular analysis confirmed the diagnosis of BWS and showed an isolated demethylation of the KCNQ1OT1 gene. This report demonstrates that lethal fetal abdominal wall defects associated with adrenal cytomegaly are linked to epigenetic change of the 11p15 imprinted region.
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keywords = adrenal
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8/28. Hepatic hemangioendotheliomas, placental chorioangiomas, and dysmorphic kidneys in beckwith-wiedemann syndrome.

    A 4-month-old female, birth weight 3150 g, had a history of maternal eclampsia, multiple placental chorioangiomas, and persistent neonatal hypoglycemia. macroglossia and enlarged kidneys were recorded. autopsy revealed multiple hepatic hemangioendotheliomas (type 1), massive cardiomegaly, and bilateral nephromegaly. Both kidneys were lobulated with active glomerulogenesis and clusters of immature tubules and foci of dysplastic medullary ducts. The features suggest that the nephrogenesis was secondary to the persistence of actively branching nephron-inducing ducts. Nodular hyperplasia of the adrenal cortex (adrenoblastomatosis) was present. This report expands the list of tumors to be found in beckwith-wiedemann syndrome (BWS).
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ranking = 0.50988016326531
keywords = adrenal, cortex
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9/28. beckwith-wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings.

    beckwith-wiedemann syndrome is characterized by a group of clinical abnormalities, the most frequent of which are omphalocele, macroglossia, gigantism, neonatal hypoglycemia and umbilical hernia. The association of this syndrome with malignant tumors is well documented. We report a child with this syndrome associated with bilateral adrenal pheochromocytoma.
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ranking = 2.5
keywords = adrenal
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10/28. prenatal diagnosis of beckwith-wiedemann syndrome.

    OBJECTIVES: The diagnosis of beckwith-wiedemann syndrome (BWS) typically is made after birth. To our knowledge, no established guidelines exist for the prenatal diagnosis of this condition. We present two new cases of prenatally diagnosed BWS and propose a diagnostic schema. methods: Published reports obtained from medline searches were reviewed and combined with our cases. RESULTS: Our proposed schema of two major criteria (abdominal wall defect, macroglossia, macrosomia) or one major plus two minor criteria (nephromegaly/dysgenesis, adrenal cytomegaly, aneuploidy/abnormal loci, polyhydramnios) fits all published reports of prenatally diagnosed BWS. CONCLUSION: The prenatal diagnosis of BWS can be reliably made by applying our proposed guidelines. This schema allows for uniform fetal diagnosis of the syndrome and helps prepare for prenatal counseling and peri- and post-natal management strategies.
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ranking = 0.5
keywords = adrenal
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