Article
Genome-wide paternal uniparental disomy as a cause of Beckwith-Wiedemann syndrome associated with recurrent virilizing adrenocortical tumors.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Jun 2015
Bertoin F, Letouzé E, Grignani P, Patey M, Rossignol S, Libé R, Pasqual C, Lardière-Deguelte S, Hoeffel-Fornes C, Gaillard D, Previderè C, Delemer B, Lalli E
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by fetal macrosomia, macroglossia, and abdominal wall defects. BWS patients are at risk to develop Wilms tumor, neuroblastoma, hepatoblastoma, and adrenal tumors. A young woman with BWS features, but with inconclusive genetic evidence for the disease, came to clinical observation for signs of virilization at the age of 16 years. An...
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