Studies of malformation syndromes of man XXIX: The Wiedemann-Beckwith syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1976-09

AUTHORS

Andrew L. Kosseff, Jürgen Herrmann, Enid F. Gilbert, Chirane Viseskul, Mark Lubinsky, John M. Opitz

ABSTRACT

This report describes 12 patients with the Wiedemann-Beckwith syndrome (WBS), including 6 familial cases from 2 families. The clinical manifestations do not allow for a differentiation between familial and sporadic cases. Consistent morphologic features include organomegaly, cytomegaly nd nucleomegaly. The pathogenetic process may involve few or many organs and tissues and may represent a nuclear/mitotic dysfunction. Clinically, the manifestations are hyperplasia, hypoplasia, dysplasia, neoplasia and defects in differentiation. Secondary functional disturbances are at times prominent.The differential diagnosis of the WBS includes 1) the Wilms' tumor (WT)-aniridia syndrome; 2) the “tumor-hypertrophy syndrome” which includes WT, adrenocortical tumors or hepatoblastoma; 3) the WT-pseudohermaphroditism syndrome; and 4) the “tumor-nevus syndrome” with or without malformations (particularly duplications) of the urinary tract. The latter two conditions are apparently not associated with hemihypertrophy.Familial occurrence suggests that some cases of the WBS may be due to delayed mutation. Carriers of the premutated allele appear to belong to two classes: those with a high risk of producing affected offspring and those who transmit the premutated allele but have no affected offspring. More... »

PAGES

139-166

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00452093

DOI

http://dx.doi.org/10.1007/bf00452093

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1052617878

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/976281


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