McKusick-Kaufman syndrome: report of an instructive family.
We report on two sisters and their brother, all of whom are affected by McKusick-Kaufman syndrome. This sibship confirms autosomal recessive inheritance and the occurrence of the syndrome in Melanesians. It also demonstrates multisystem involvement in both sexes and illustrates difficulties in the diagnosis and management of hydrocolpos.
Vince
J D
JD
Port Moresby General Hospital, Boroko, Papua New Guinea.
Martin
N J
NJ
D000015:Abnormalities, Multiple / Q000235:genetics; D003456:Cryptorchidism / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014621:Vagina / Q000002:abnormalities*