The Coffin-Siris Syndrome

Sir .—One additional feature, aplasia of the uterus, eventually may be added to the syndrome that we have already described. 1 We are still in contact with one patient who has this syndrome: she is listed as patient 3 in our original article, and as patient 6 in a later communication by Carey and Hall. 2 When the patient reached the age of 21 years and still showed small stature and no sign of puberty, a gynecologic examination was performed. No uterus or ovaries were found, and the vagina was a small blind pouch 1 cm deep. Further studies and observations are in progress. We hope that other children with this syndrome can be examined with these findings in mind.