Download a PDF of chromosome information and PDF of clinical information from our researcher in Brazil. Read an Australian Radiology 2007 report of two cases and a review of the literature.

Note from the RSF - Article describes a case in 1998. There are two known cases of vaginal atresia. Both known were recessive Robinow Syndrome.

Am J Med Genet. 1998 Aug 27;79(1):27-9.

Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger.

Balci S, Beksaç S, Haliloglu M, Ercis M, Eryilmaz M.

Department of Pediatrics, University of Hacettepe, Ankara, Turkey.

A 14-year-old girl with Robinow syndrome was admitted with severe abdominal pain that had recurred periodically during the last 6 months. She had been followed by us since age 2 months and she had not experienced menarche yet; hematocolpos related to vaginal atresia was diagnosed. She underwent vaginoplasty with cervical construction. Genital system abnormalities are common in Robinow syndrome, but this kind of malformation has not been reported previously.

PMID: 9738864 [PubMed - indexed for MEDLINE]