Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome?

F R Vargas; R L Pontes; J C Llerena Júnior; J C de Almeida

doi:10.1002/ajmg.1320550303

Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome?

Am J Med Genet. 1995 Jan 30;55(3):261-4. doi: 10.1002/ajmg.1320550303.

Authors

F R Vargas¹, R L Pontes, J C Llerena Júnior, J C de Almeida

Affiliation

¹ Centro de Genetica Medica, IFF, Fiocruz, Rio de Janeiro, Brazil.

PMID: 7726219
DOI: 10.1002/ajmg.1320550303

Abstract

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.

MeSH terms

Abnormalities, Multiple / genetics*
Adolescent
Adult
Bone and Bones / abnormalities*
Fibula / abnormalities
Genes, Dominant
Humans
Infant
Male
Pedigree
Polydactyly / genetics*
Syndrome
Thumb / abnormalities
Tibia / abnormalities