Article
Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association?
American journal of medical genetics. Part A - 1 Aug 2020
Macchiaiolo Marina, Markowich Anna H, Diociaiuti Andrea, Gonfiantini Michaela V, Buonuomo Paola S, Rana Ippolita, Monti Lidia, El Hachem May, Bartuli Andrea
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, caused by alterations in a cluster of imprinted genes located within the chromosome region 11p15.5. Common clinical features are overgrowth, macroglossia, lateralized overgrowth, abdominal wall defects, neonatal hypoglycemia and an increased risk of embryonal tumors, such as hepatoblastomas. Periodic screening for abdominal tumors is recommended....
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