Congenital cholestasis with lymphedema (Aagenaes syndrome) is a rare autosomal recessive disorder first described in a large Norwegian kindred in 1968. The natural history of this disorder is still unclear due to lack of longitudinal data on affected patients. We report the medical status of a 24-year-old woman with Aagenaes syndrome who was reported previously in the literature at age 2 years.
|Original language||English (US)|
|Number of pages||4|
|Journal||Dysmorphology and Clinical Genetics|
|State||Published - Dec 1 1992|
- Aagenaes syndrome
- Norwegian cholestasis
ASJC Scopus subject areas