Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth.
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.
D000293:Adolescent; D001763:Blepharoptosis / Q000235:genetics*; D002648:Child; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006343:Heart Septal Defects / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*