Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome)

A A Morris; J S Sequeira; M Malone; S F Slaney; P T Clayton

doi:10.1136/jmg.34.10.852

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome)

J Med Genet. 1997 Oct;34(10):852-3. doi: 10.1136/jmg.34.10.852.

Authors

A A Morris¹, J S Sequeira, M Malone, S F Slaney, P T Clayton

Affiliation

¹ The Institute of Child Health, London, UK.

Abstract

We report a mother and daughter with features of Aagenaes syndrome. Unlike most previous cases, there is no Norwegian ancestry and the pedigree favours dominant rather than recessive inheritance.

Publication types

Case Reports

MeSH terms

Adult
Bile Ducts / abnormalities
Cholestasis, Intrahepatic / drug therapy
Cholestasis, Intrahepatic / genetics*
Cholestasis, Intrahepatic / metabolism
Cholestasis, Intrahepatic / pathology
Female
Humans
Infant
Liver / pathology
Lymphedema / genetics*
Lymphedema / metabolism
Lymphedema / pathology
Male
Pedigree
Syndrome