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Case Reports
. 1986 Jun;23(3):242-4.
doi: 10.1136/jmg.23.3.242.

Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Case Reports

Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

S Ohdo et al. J Med Genet. 1986 Jun.

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.

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References

    1. N Engl J Med. 1978 May 11;298(19):1063-7 - PubMed
    1. J Med Genet. 1972 Mar;9(1):60-3 - PubMed

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