Retinoblastoma associated with congenital hypotonia: A case report and review of the literature

Peter E. Zage, Monisha Chopra, Wes McRae, Stewart Goldman

Research output: Contribution to journalArticlepeer-review


Retinoblastoma is the most common intraocular tumor of childhood and can be either unilateral or bilateral and either hereditary or non-hereditary. Retinoblastoma is associated with mutations of the Rb gene on chromosome 13q, and chromosome 13q deletions and translocations in association with retinoblastoma have been described. Retinoblastoma can be associated with developmental delay, growth retardation, and congenital malformations. The authors describe a child with congenital hypotonia who developed retinoblastoma and was found to have a t(X;13) chromosomal translocation. The occurrence of hypotonia in association with retinoblastoma suggests an etiological link between the two disorders.

Original languageEnglish (US)
Pages (from-to)265-270
Number of pages6
JournalJournal of Pediatric Neurology
Issue number4
StatePublished - 2006


  • Congenital hypotonia
  • Retinoblastoma
  • t(X;13) translocation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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