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- W2109753113 abstract "Abstract 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 of isolated hemihyperplasia may, in fact, represent cases of Beckwith‐Wiedemann syndrome with reduced expressivity. Clinical features of Beckwith‐Wiedemann syndrome, in addition to the triad mentioned above, include hemihyperplasia, umbilical hernia, diastasis recti, embryonal tumors, adrenocortical cytomegaly, ear anomalies, visceromegaly, renal abnormalities, and neonatal hypoglycemia. Supportive findings may include polyhydramnios and prematurity, enlarged placenta, cardiomegaly, and characteristic facies. The latter feature is much more recognizable in early life and becomes less obvious over time. Beckwith‐Wiedemann syndrome is a complex multigenic disorder caused by alterations in growth regulatory genes on chromosome 11p15 and can currently be categorized into eight distinct genetic groups." @default.
- W2109753113 created "2016-06-24" @default.
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- W2109753113 date "2005-01-14" @default.
- W2109753113 modified "2023-10-13" @default.
- W2109753113 title "<scp>B</scp> eckwith‐ <scp>W</scp> iedemann Syndrome and Hemihyperplasia" @default.
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- W2109753113 doi "https://doi.org/10.1002/0471695998.mgs010" @default.
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