The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot

E Thompson; R Cadbury; M Baraitser

doi:10.1136/jmg.22.5.408

The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot

J Med Genet. 1985 Oct;22(5):408-10. doi: 10.1136/jmg.22.5.408.

Authors

E Thompson, R Cadbury, M Baraitser

Abstract

A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis syndrome. In addition, the tetralogy of Fallot was present. Major congenital heart malformations occur rarely in this syndrome.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / complications*
Face / abnormalities*
Humans
Infant, Newborn
Male
Syndrome
Tetralogy of Fallot / complications*
Thumb / abnormalities