Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome?
We report on a family in which the autosomal dominant Werner syndrome (WS) (MIM# 188770) affects ten members in three generations. Besides the absent tibiae the propositus had duplication of the fibulae. Possible pathogenetic mechanism is discussed.
Vargas
F R
FR
Centro de Genetica Medica, IFF, Fiocruz, Rio de Janeiro, Brazil.
Pontes
R L
RL
Llerena Júnior
J C
JC
de Almeida
J C
JC
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D005360:Fibula / Q000002:abnormalities; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D017689:Polydactyly / Q000235:genetics*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities; D013977:Tibia / Q000002:abnormalities