Journal of Medical Genetics, 1998, Vol 35, 153-156

ARTICLES

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma

P Lapunzina, I Badia, C Galoppo, E De Matteo, P Silberman, A Tello, J Grichener and R Hughes-Benzie
Department of Paediatrics, Hospital de Ninos de Buenos Aires, University of Buenos Aires, Argentina.

Simpson-Golabi-Behmel syndrome (SGBS) is an X linked disorder characterised by pre- and postnatal overgrowth, coarse facial features, and visceral and skeletal abnormalities. Like other overgrowth syndromes, in the SGBS there is an increased risk for developing neoplasia, mainly embryonic, such as Wilms tumour. We report a 3 year old male patient with SGBS and hepatocellular carcinoma, a previously undescribed tumour associated with the syndrome.

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