McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.
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.
Gaucherand
Pascal
P
Obstetrical Unit, Croix-Rousse Hospital, 93 Grande rue de la Croix-Rousse, 69004 Lyon, France.
Vavasseur-Monot
Chantal
C
Ollagnon
Elizabeth
E
Boisson
Catherine
C
Labaune
Jean-Marc
JM
Basset
Thierry
T
Yared
George
G
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*