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

• Main Authors: Yelda Türkmenoğlu (Author), Yeşim Acar (Author), Fatih Cemal Özdemir (Author), Ralfi Singer (Author), Afig Berdeli (Author), Servet Erdal Adal (Author)
• Format: Book
• Published: Galenos Yayinevi, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 incl...