title: McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.
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.
authors.affiliation: Obstetrical Unit, Croix-Rousse Hospital, 93 Grande rue de la Croix-Rousse, 69004 Lyon, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Gaucherand
authors.forename: Chantal
authors.initials: C
authors.lastname: Vavasseur-Monot
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Ollagnon
authors.forename: Catherine
authors.initials: C
authors.lastname: Boisson
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Labaune
authors.forename: Thierry
authors.initials: T
authors.lastname: Basset
authors.forename: George
authors.initials: G
authors.lastname: Yared
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D020788:Bardet-Biedl Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D017689:Polydactyly / Q000235:genetics; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal; D014591:Uterine Diseases / Q000151:congenital* / Q000000981:diagnostic imaging*