Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth.
نویسندگان
چکیده
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.
منابع مشابه
Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).
In 1987 Young and Simpson reported a child with hypothyroidism, congenital heart disease, severe mental retardation, and striking facial dysmorphism. Two subsequent reports have described patients sharing some of the features of their case, although in both there were enough discordant features to make it uncertain that the same entity was being described. Here we present a female infant with v...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 23 3 شماره
صفحات -
تاریخ انتشار 1986