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J Med Genet 29:673-675 doi:10.1136/jmg.29.9.673
  • Research Article

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

  1. T Revesz,
  2. S Fletcher,
  3. L I al-Gazali,
  4. P DeBuse
  1. Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

      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.