8 ⅐ No. 10 Molecular diagnosis of Beckwith-Wiedemann Syndrome using quantitative methylation-sensitive polymerase chain reaction Bradford Coffee, PhD1, Kasinathan Muralidharan, PhD1, William E. Highsmith Jr., PhD2, Pablo Lapunzina, MD3, and Stephen T. Warren, PhD1 Purpose: Beckwith-Wiedemann...
The atypical presence of fetal growth restriction in the newborn and the absence of CDKN1C gene mutations have not been reported to date in BWS. Keywords: Beckwith–Wiedemann syndrome; HELLP syndrome; preeclampsia; CDKN1C; fetal growth restriction...
To have a greater effectiveness in growth plate block, new bigger “quad” plates were used (8) in 6 cases. In only two cases screw breakage occurred during surgical removal (Figure 10). Figure 10. BWS (Beckwith-Wiedemann syndrome) female patient with severe LLD (leg length discrepancy) ...
Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is a congenital epigenetic overgrowth disorder with tumor predisposition caused by an abnormal expression or function of imprinted genes of the chromosome 11p15.5 imprinting gene cluster. It is characterized by a spectrum of clinical features, including macr...