American Journal of Medical Genetics · 2001 · 18 citations · 0 references
MedicineCardiologyOncologyMetastasisNeoplasiaPediatric PathologyCongenital AnomaliesFetal AnomaliesNeoplastic PathologyPediatric TumorsVascular AnomaliesVascular MalformationsCardiovascular AnomaliesCongenital Cardiac AnomaliesCongenital Vascular AnomaliesExtracardiac Vascular AnomaliesNeuroblastoma BiologyPediatric Vascular Anomalies
We report on an infant with Weaver syndrome, neoplasia and cardiovascular anomalies. Stage 4S neuroblastoma underwent spontaneous resolution. Three neoplasms have been reported in Weaver syndrome: another stage 4S neuroblastoma [Muhonen and Menezes, 1990: J Pediatr 116:596-599], an ovarian endodermal sinus tumor [Derry et al., 1999: J Med Genet 36:725-728], and a sacrococcygeal teratoma [Kelly et al., 2000: Am J Med Genet 95:492-495]. No case was associated with cardiovascular anomalies. Our patient had VSD and PDA, and although several other patients with Weaver syndrome have had cardiovascular anomalies, they were shown not to have neoplasia.