title: Piebaldism: an autonomous autosomal dominant entity.
abstract: Piebaldism is a disorder in which the major clinical features are patchy hypopigmentation of the skin and a white forelock. The manifestations of piebaldism overlap with those of other genodermatoses, in particular the Waardenburg syndrome, and it is uncertain whether piebaldism is a distinct entity. We have documented a family in which seven affected members in three generations have gross piebaldism without any additional stigmata. The intrafamilial phenotypic consistency is suggestive that this autosomal dominant disorder has independent syndromic status. Linkage studies using conventional gene markers failed to identity the locus of the faulty gene.
authors.affiliation: MRC Research Unit for Inherited Skeletal Disorders, University of Cape Town, South Africa.
authors.forename: I
authors.initials: I
authors.lastname: Winship
authors.forename: K
authors.initials: K
authors.lastname: Young
authors.forename: R
authors.initials: R
authors.lastname: Martell
authors.forename: R
authors.initials: R
authors.lastname: Ramesar
authors.forename: D
authors.initials: D
authors.lastname: Curtis
authors.forename: P
authors.initials: P
authors.lastname: Beighton
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D010375:Pedigree; D016116:Piebaldism / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D013019:South Africa
chemical_list: D005819:Genetic Markers