Abstract
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) |
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Pages (from-to) | 180-183 |
Number of pages | 4 |
Journal | Dysmorphology and Clinical Genetics |
Volume | 6 |
Issue number | 4 |
State | Published - Dec 1 1992 |
Keywords
- Aagenaes syndrome
- Lymphedema
- Norwegian cholestasis
ASJC Scopus subject areas
- Anatomy
- Genetics(clinical)