[A Swiss family with Klein-Waardenburg's syndrome associated with hyperkeratosis of the palms and feet and with serious oligophrenia].
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001773:Blood Cells / Q000166:cytology; D002648:Child; D003638:Deafness / Q000235:genetics*; D004200:Diseases in Twins; D005128:Eye Diseases / Q000235:genetics; D005138:Eyebrows / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007498:Iris / Q000002:abnormalities; D007621:Karyotyping; D007642:Keratosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009666:Nose / Q000002:abnormalities; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000196:embryology / Q000235:genetics
Une famille suisse atteinte du syndrome de Klein-Waardenburg associé à une hyperkératose palmo-plantaire et à une oligophrénie grave.