January 1985

The Coffin-Siris Syndrome

Author Affiliations

2915 Telegraph Ave Berkeley, CA 94705

Am J Dis Child. 1985;139(1):12. doi:10.1001/archpedi.1985.02140030014014

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.

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