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, cilt.5, ss.161-163, 2018 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 5 Konu: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jpr.38257
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Sayfa Sayıları: ss.161-163

Özet

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.