Related Experiment Video
Updated: May 29, 2026
Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome
Published on: May 10, 2022
Our experience with McKusick-Kaufman syndrome patients
K Sonmez1, Z Turkyilmaz, R Karabulut
1Department of Pediatric Surgery, Faculty ofMedicine, Gazi University, Ankara, Turkey.
Aim:
McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive disorder. Less than one hundred cases have been reported in the English literature to date. We report three different aged children with a large hydrometrocolpos and postaxial polydactyl.
Patients And Results:
These children had various degrees of associated renal disorders. Bardet Biedl syndrome (BBS) is characterized by retinal dystrophy or retinitis pigmentosa, postaxial polydactyl, obesity, nephropathy, mental disturbances or mental retardation. Typically MKKS is diagnosed in young children especially in neonates whereas the diagnosis of BBS is delayed until the teenage years.
Conclusion:
All MKKS cases should be re-evaluated for Retinitis pigmentosa, other signs of BBS and for disorders that may worsen with time (Ref. 12).
