A Rare Case of Cholestasis: Arthrogryposis, Renal Tubular Disorder and Cholestasis Syndrome


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Turkmenoglu Y., Acar Y., Ozdemir F. C. , Singer R., BERDELİ A. , Adal S. E.

JOURNAL OF PEDIATRIC RESEARCH, vol.5, no.3, pp.161-163, 2018 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 5 Issue: 3
  • Publication Date: 2018
  • Doi Number: 10.4274/jpr.38257
  • Title of Journal : JOURNAL OF PEDIATRIC RESEARCH
  • Page Numbers: pp.161-163

Abstract

Arthrogryposis, renal tubular dysfunction and cholestasis (ARC) syndrome is a rare, autosomal recessive multisystem disorder. Severe growth retardation, ichthyosis, recurrent febrile disease, platelet abnormalities, sensorineural hearing loss, hypotonia and corpus callosum dysgenesis were later included as further features of this syndrome. We present a case of ARC syndrome diagnosed by genetic analysis.