Hereditary cholestasis of the Norwegian type: Aagenaes syndrome

N. M. Lindor, A. Schirger, V. V. Michels

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)180-183
Number of pages4
JournalDysmorphology and Clinical Genetics
Volume6
Issue number4
StatePublished - Dec 1 1992

Keywords

  • Aagenaes syndrome
  • Lymphedema
  • Norwegian cholestasis

ASJC Scopus subject areas

  • Anatomy
  • Genetics(clinical)

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    Lindor, N. M., Schirger, A., & Michels, V. V. (1992). Hereditary cholestasis of the Norwegian type: Aagenaes syndrome. Dysmorphology and Clinical Genetics, 6(4), 180-183.