title: A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.
abstract: 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.
authors.affiliation: Department of Paediatrics, Hospital de Niños de Buenos Aires, University of Buenos Aires, Argentina.
authors.forename: P
authors.initials: P
authors.lastname: Lapunzina
authors.forename: I
authors.initials: I
authors.lastname: Badia
authors.forename: C
authors.initials: C
authors.lastname: Galoppo
authors.forename: E
authors.initials: E
authors.lastname: De Matteo
authors.forename: P
authors.initials: P
authors.lastname: Silberman
authors.forename: A
authors.initials: A
authors.lastname: Tello
authors.forename: J
authors.initials: J
authors.lastname: Grichener
authors.forename: R
authors.initials: R
authors.lastname: Hughes-Benzie
mesh_terms: D006528:Carcinoma, Hepatocellular / Q000150:complications* / Q000235:genetics; D002585:Cesarean Section; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics / Q000601:surgery; D002972:Cleft Palate / Q000235:genetics / Q000601:surgery; D017809:Fatal Outcome; D005260:Female; D005320:Fetal Macrosomia / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D007150:Immunohistochemistry; D007234:Infant, Premature; D008067:Lipoma / Q000235:genetics; D008099:Liver / Q000000981:diagnostic imaging; D008113:Liver Neoplasms / Q000150:complications* / Q000235:genetics; D008260:Macroglossia / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014056:Tomography, X-Ray; D014463:Ultrasonography; D014960:X Chromosome / Q000235:genetics*