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Am J Med Genet A. 2013 Jul;161A(7):1759-62. doi: 10.1002/ajmg.a.35966. Epub 2013 May 21.

Two cases of hepatic adenomas in patients with Wolf-Hirschhorn syndrome: a new rare complication?

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Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, S.Gerardo Hospital, Monza, Italy.


Wolf-Hirschhorn syndrome (WHS) is a rare microdeletion syndrome associated with a characteristic facial appearance, failure to thrive, psychomotor delays, and various major malformations of internal organs; many medical complications have been described (feeding difficulties, epilepsy, hearing problems). Benign or malignant oncologic problems are not a typical feature of the natural history of these patients. We report on two patients with WHS patients in whom hepatic adenoma (HA) were diagnosed during adolescence. The clinical evolution of liver involvement was different between the two. We discuss the possibility of considering HA as a rare medical problem in the follow-up of WHS patients.

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