Weaver syndrome with neuroblastoma and cardiovascular anomalies.

Abstract

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.

• Authors: C Huffman, D McCandless, R Jasty, J Matloub, H B Robinson, D D Weaver, M M Cohen Jr
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 99 Issue 3 Pg. 252-5 (Mar 15 2001) ISSN: 0148-7299 [Print] United States
• PMID: 11241499 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2001 Wiley-Liss. Inc.

Topics

• Abnormalities, Multiple
• Heart Defects, Congenital
• Humans
• Infant, Newborn
• Liver Neoplasms (congenital, pathology)
• Male
• Neoplasm Staging
• Neuroblastoma (congenital, pathology)
• Syndrome