Coarctation of the aorta in Kabuki syndrome.
نویسندگان
چکیده
The incidence of congenital heart defects in patients with Kabuki syndrome is estimated to be about 30%. To date, no specific type of heart malformation is known to be associated with the syndrome. A further 20 unselected children with Kabuki syndrome are presented. The incidence of heart abnormalities in these children is almost twice that previously reported (55%) and juxta-ductal coarctation occurs with a frequency of 25%.
منابع مشابه
Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.
We present monozygotic twin boys with features of Kabuki syndrome. The twins were discordant for cleft palate and coarctation of the aorta. The occurrence of Kabuki syndrome in monozygotic twins has not been previously reported and reinforces the belief that this condition has a genetic basis. Chromosomal analysis on the boys showed a pseudodicentric chromosome 13 with an inactive centromere an...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 70 6 شماره
صفحات -
تاریخ انتشار 1994