Beckwith-Wiedemann syndrome: Role of ultrasound in its management

Shah, Kishore

doi:10.1016/s0009-9260(83)80346-8

Cited by 42 publications

(25 citation statements)

References 7 publications

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“…A screening protocol for WBS has recommended that abdominal ultrasound studies be performed every three months until age six, and preferably until age 12 years [Shah, 1983]. Two children, one infant and one five-year-old, were reported to have developed large Wilms tumors nine months and five months, respectively, after their last ultrasound screening, lending credence to the assertion that six months may be too long a screening interval, especially in early childhood when the risk for the development of Wilms tumor is greatest [Azouz et al, 1990].…”

Section: Discussionmentioning

confidence: 99%

Isolated hemihyperplasia (hemihypertrophy): Report of a prospective multicenter study of the incidence of neoplasia and review

et al. 1998

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Hemihyperplasia is characterized by asymmetric growth of cranium, face, trunk, limbs, and/or digits, with or without visceral involvement. It may be an isolated finding in an otherwise normal individual, or it may occur in several syndromes. Although isolated hemihyperplasia (IHH) is of unknown cause, it may represent one end of the clinical spectrum of the Wiedemann-Beckwith syndrome (WBS). Uniparental paternal disomy of 11p15.5 or altered expression of insulin-like growth factor 2 (IGF2) from the normally silent maternal allele have been implicated as causes of some cases of WBS. IHH and other mild manifestations of WBS may represent patchy overexpression of the IGF2 gene following defective imprinting in a mosaic fashion. The natural history of IHH varies markedly. An association among many overgrowth syndromes and a predisposition to neoplasia is well recognized. Heretofore the risk for tumor development in children with IHH was unknown. We report on the results of a prospective multicenter clinical study of the incidence and nature of neoplasia in children evaluated because of IHH. One hundred sixty-eight patients were ascertained. A total of 10 tumors developed in nine patients, for an overall incidence of 5.9%. Tumors were of embryonal origin (similar to those noted in other overgrowth disorders), including Wilms tumor, hepatoblastoma, adrenal cell carcinoma, and leiomyosarcoma of the small bowel in one case. These data support a tumor surveillance protocol for children with IHH similar to that performed in other syndromes associated with overgrowth.

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Section: Discussionmentioning

confidence: 99%

Isolated hemihyperplasia (hemihypertrophy): Report of a prospective multicenter study of the incidence of neoplasia and review

et al. 1998

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“…Sonographic monitoring for intra-abdomi nal malignancies should be performed each trimester in the first 6 years of life, and twice a year later [14], Early functional treatment of macroglossia helps to prevent speech distur bances, and may avoid operative tongue re duction [15], Parents need comprehensive in formation on these items to understand and take an active part in the necessary therapeu tic measures. Families should be offered genetical counselling.…”

Section: Discussionmentioning

confidence: 99%

Beckwith-Wiedemann Syndrome: Difficulties with Prenatal Diagnosis

Nowotny

Bollmann²,

Windt³

1994

Fetal Diagn Ther

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Beckwith-Wiedemann syndrome (BWS), though a well-delineated clinical and morphological entity, can be difficult to diagnose by prenatal ultrasound examination when incomplete forms occur. We present a case with sonographic results including hydronephrosis, cardiomegalia, hepatomegalia, macroglossia, and prominent forehead. No abdominal wall defect was detected. Karyotype was normal. In spite of intensive prenatal diagnostics, BWS could not be diagnosed definitely until birth.

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“…The predisposition to malignancy in the WiedemannBeckwith syndrome is the basis of the recommendation for 3-monthly ultrasound examinations of the abdomen up to the age of 5 years and then 6-monthly examinations till adolescence [5]. However our experience of the appearance de novo of a 6.5 cm tumour by 19 days of age suggests that children with Wiedemann-Beckwith syndrome should be scanned at weekly intervals during the first month of life.…”

Section: Discussionmentioning

confidence: 99%