Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care.
Literature review and clinical findings in four affected adult males from one family suggest that there are serious and currently ill-defined health risks in adults with Beckwith-Wiedemann syndrome (BWS). These may include male subfertility, vascular anomalies, renal abnormalities, hearing loss and, possibly, an increased risk for adult-onset malignancy. Given present knowledge, recommendations in caring for adults with this disorder remain tentative but likely should include counseling for possible infertility in males, screening echocardiography, renal sonogram and renal function testing, and counseling about possible increased risk for adult onset malignancy.
Greer
Kimberly J
KJ
Department of Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin, USA.
Kirkpatrick
Susan J
SJ
Weksberg
Rosanna
R
Pauli
Richard M
RM
D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000150:complications / Q000235:genetics* / Q000628:therapy*; D003376:Counseling; D050761:Cyclin-Dependent Kinase Inhibitor p57 / Q000235:genetics; D004452:Echocardiography; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007231:Infant, Newborn; D007248:Infertility, Male / Q000209:etiology; D007668:Kidney / Q000000981:diagnostic imaging; D007677:Kidney Function Tests; D008297:Male; D009369:Neoplasms / Q000209:etiology; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors
C493964:CDKN1C protein, human; D050761:Cyclin-Dependent Kinase Inhibitor p57