Author(s): Gaucherand P, VavasseurMonot C, Ollagnon E, Boisson C, Labaune JM,
Abstract Share this page
Abstract McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. We report such a case diagnosed just before birth with a favourable outcome. From this case we describe and discuss all the prenatal sonographic signs which are not always present. On the genetic side, the gene has recently been localized together with the mutation responsible for MKKS. The phenotypic relationship between MKKS which has a good prognosis and Bardet-Biedl syndrome (BBS) with a worse prognosis requires great caution before diagnosing MKKS and a long follow-up is necessary to recognize obesity, growth retardation and pigmentary retinitis. Copyright 2002 John Wiley & Sons, Ltd.
This article was published in Prenat Diagn
and referenced in Journal of Molecular and Genetic Medicine