Unilateral partial absence of the fallopian tube in Williams syndrome: a new feature?

摘要

At her own request an 18-year-old woman with Williams-Beuren Syndrome (WS) was laparoscopically sterilized. At laparoscopy, the proximal part of the right fallopian tube, known as the isthmus, was absent. The right ampulla appeared to end blindly in the peritoneal fold of the broad ligament. The right fimbriae and ovary, the left fallopian tube, the left ovary, and the uterus did not demonstrate any abnormalities (Fig. 1). No evidence of adhesions, endome-triosis, or previous pelvic infection was noted. At the age of 9 months the diagnosis of WS had been made on the basis of supravalvular aortic stenosis and the characteristic facial appearance of WS. The patient developed the typical cognitive WS phenotype with mild mental retardation with relatively good verbal performance.