Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: A new syndrome?

T. Revesz, S. Fletcher, L. I. Al-Gazali, P. DeBuse

Research output: Contribution to journalArticlepeer-review

86 Citations (Scopus)

Abstract

A male infant was found to have bilateral exudative retinopathy at 6 months of age. A month later severe aplastic anaemia was diagnosed, eventually leading to the infant's death. Additional features of this seemingly new syndrome were intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, and progressive psychomotor retardation.

Original languageEnglish
Pages (from-to)673-675
Number of pages3
JournalJournal of medical genetics
Volume29
Issue number9
DOIs
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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