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Research Article
Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth.
  1. S Ohdo,
  2. H Madokoro,
  3. T Sonoda,
  4. K Hayakawa

    Abstract

    We report two sisters with mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. A female paternal cousin has the same anomalies, but without congenital heart disease. The chromosomes of these patients are normal and the parents are non-consanguineous.

    https://doi.org/10.1136/jmg.23.3.242

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