Beckwith-Wiedemann syndrome is characterized by a triad of exomphalos, macroglossia, and gigantism. The population incidence is estimated to be 1 in 13,700 with equal incidence in males and females. This is likely an underestimate as cases with milder phenotypes may not be diagnosed. Some cases...
Beck's triad Beckwith Beckwith syndrome Beckwith, John Bruce Beckwith-Wiedemann syndrome Beclard Beclard hernia Beclard triangle Beclard, Pierre A. Beclard's hernia beclin 1 Becloforte beclometasone beclomethasone beclomethasone dipropionate beclomethasone diproprionate ...
Wilms tumor of the kidney occurs with increased frequency in association with two clinically and cytogenetically distinct congenital syndromes, the Wiedemann-Beckwith syndrome (WBS) and the triad of aniridia, genitourinary anomalies, and... A Koufos - 《Am.j.hum.genet》 被引量: 831发表: 1989年...
Beckwith–Wiedemann syndrome is a congenital anomaly. It was reported by Beckwith [Beckwith JB. Macroglossia, omphalocele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly. In: Bersma D, editor. Part II. Malformation syndromes, birth defects: original article series, vol. 5, no. 2....
Beckwith-Wiedemann syndrome (BWS) is characterized in most reported cases by the triad of Exomphalous, Macroglossia and Gigantism (EMG syndrome). However, these major manifestations probably represent the extremes of this syndrome while cases with minor or time-dependent manifestations are usually ...
We report the association of Beckwith-Wiedemann syndrome (BWS) and a residual acid sphingomyelinase (ASM) activity of about 35% in a 23 months old Hungarian boy. Besides the classical triad of exomphalos, macroglossia and gigantism some other BWS-related features: polyhydramnios (known from ...
Wilms tumor of the kidney occurs with increased frequency in association with two clinically and cytogenetically distinct congenital syndromes, the Wiedemann-Beckwith syndrome (WBS) and the triad of aniridia, genitourinary anomalies, and... A Koufos - 《Am.j.hum.genet》 被引量: 831发表: 1989年...
Early detection of Beckwith–Wiedemann syndrome (BWS) is very important since it is very useful regarding counseling of parents concerning the risk of developing embryonic tumors, selection of the mode of delivery due to potential adrenal cysts that might bleed during labor, prevention of neonatal ...
genetic counselingBeckwith-Wiedemann Syndromemorphological phenotypegenetic testsBeckwith-Wiedemann syndrome is characterized by a basal triad of a cardinal features such as: exomphalos, macroglossia and gigantismas a result of variety of (epi)genetic abnormalities involving the short arm of chromosome 11,...