AGENESIS OF THE CORPUS-CALLOSUM IN TURNER SYNDROME WITH RING-X

An 8-year-old girl with Turner syndrome and 45,X/46,X,r(X) mosaicism w as found to have agenesis of the corpus callosum and various other cha racteristics including 'kabuki makeup' facial features and mild learni ng disability, Only two other cases of Turner syndrome associated with agenesis of the corpus callosum have been reported, both in patients with a 45,X karyotype, In both of those patients the constellation of signs differed from those of the present patient in a number of ways, It remains to be confirmed whether there is a higher incidence of CNS malformation in girls who have Turner syndrome with a ring X than has been reported for girls with Turner syndrome in general.