Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
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.
Morris
A A
AA
The Institute of Child Health, London, UK.
Sequeira
J S
JS
Malone
M
M
Slaney
S F
SF
Clayton
P T
PT
D000328:Adult; D001652:Bile Ducts / Q000002:abnormalities; D002780:Cholestasis, Intrahepatic / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D008209:Lymphedema / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D010375:Pedigree; D013577:Syndrome