Microcephaly, lymphedema, and chorioretinal dysplasia: Report of two additional cases

B. Angle*, S. Holgado, B. K. Burton, M. T. Miller, M. J. Shapiro, J. M. Opitz

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


In recent years, several patients with microcephaly, lymphedema and chorioretinal dysplasia have been described. We have studied two additional patients with similar findings. The question of whether microcephaly with lymphedema and microcephaly with chorioretinal dysplasia and lymphedema are distinct entities remains unanswered. Identification of other patients in the future may provide additional information.

Original languageEnglish (US)
Pages (from-to)99-101
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number2
StatePublished - 1994


  • chorioretinal dysplasia
  • congenital abnormalities
  • lymphedema
  • microcephaly

ASJC Scopus subject areas

  • Genetics(clinical)


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