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

• Published in: Journal of medical genetics Vol. 35; no. 2; pp. 153 - 156
• Main Authors: Lapunzina, P, Badia, I, Galoppo, C, De Matteo, E, Silberman, P, Tello, A, Grichener, J, Hughes-Benzie, R
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.02.1998; BMJ; BMJ Publishing Group LTD
• Subjects: Biological and medical sciences; Carcinoma, Hepatocellular - complications; Carcinoma, Hepatocellular - genetics; Cesarean Section; Child, Preschool; Cleft Lip - genetics; Cleft Lip - surgery; Cleft Palate - genetics; Cleft Palate - surgery; Complex syndromes; Fatal Outcome; Female; Fetal Macrosomia - genetics; Genetic Linkage; Humans; Immunohistochemistry; Infant, Premature; Lipoma - genetics; Liver - diagnostic imaging; Liver Neoplasms - complications; Liver Neoplasms - genetics; Macroglossia - genetics; Male; Medical genetics; Medical sciences; Pregnancy; Pregnancy Complications; Sex Chromosome Aberrations - genetics; Syndrome; Tomography, X-Ray; Ultrasonography; X Chromosome - genetics; Human; Sex linked character; Diseases of the osteoarticular system; Hepatic disease; Hepatocellular carcinoma; Malignant tumor; Simpson Golabi Behmel syndrome; Genetic disease; Macrosomia; Case study; Malformation; Digestive diseases; Genetics; Complication; Complex syndrome; Child
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.35.2.153

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.