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The Beckwith-Wiedemann SyndromeSeven New Cases
M. Michael Cohen, Jr., DMD;
Robert J. Gorlin, DDS;
Murray Feingold, MD;
Robert W. ten Bensel, MD
Am J Dis Child. 1971;122(6):515-519.
Abstract
Seven cases of the Beckwith-Wiedemann syndrome are reported. The features of the syndrome may include macroglossia, omphalocele or umbilical hernia, visceromegaly, postnatal gigantism, microcephaly, nevus flammeus, ear lobe grooves, diaphragmatic eventration, hemihypertrophy, and other abnormalities. The anomalies of the syndrome are facultative and not obligatory. Early diagnosis of this striking syndrome alerts the clinician to the dual threat of possible hypoglycemia and various malignant neoplasms. Although observation of the disorder in sibs suggests autosomal recessive inheritance, several pedigrees intimate that the syndrome is inherited in an autosomal dominant fashion with incomplete penetrance and variable expressivity. For the purposes of genetic counseling, a careful search for minor anomalies of the syndrome should be undertaken in relatives of the proband.
Author Affiliations
Minneapolis; Boston; Minneapolis
From the Division of Oral Pathology, School of Dentistry, University of Minnesota, Minneapolis (Drs. Cohen and Gorlin); the Department of Pediatrics, Tufts University, School of Medicine, Boston (Dr. Feingold); and the Department of Pediatrics, School of Medicine, University of Minnesota, Minneapolis (Dr. ten Bensel). Dr. Cohen is now with the School of Dentistry, University of Washington, Seattle.
Footnotes
Received for publication March 18, 1971; accepted May 18.
Reprint requests to Division of Oral Pathology, University of Minnesota School of Dentistry, 136 Owre Hall, Minneapolis 55455 (Dr. Cohen).
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