Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome.


The presence of hydrometrocolpos and postaxial polydactyly in a neonate can be caused by two genetic conditions; namely, McKusick-Kaufman syndrome and Bardet-Biedl syndrome. There are no distinct clinical features that allow discrimination between the two syndromes, as the cardinal features of rod-cone dystrophy, obesity, learning disability and renal… (More)
DOI: 10.1016/j.jpurol.2007.10.009


  • Presentations referencing similar topics