Weaver syndrome with neuroblastoma and cardiovascular anomalies

Cheryl Huffman, Dani McCandless, Rama Jasty, Joseph Matloub, Haynes B. Robinson, David D. Weaver, M. Michael Cohen

Research output: Contribution to journalArticle

14 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)252-255
Number of pages4
JournalAmerican journal of medical genetics
Volume99
Issue number3
DOIs
StatePublished - Mar 15 2001

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Keywords

  • Neoplasms
  • Ovarian endodermal sinus tumor
  • Overgrowth syndromes
  • PDA
  • Sacrococcygeal teratoma
  • Stage 4S neuroblastoma
  • VSD

ASJC Scopus subject areas

  • Genetics(clinical)

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