A Rare Case of Cholestasis: Arthrogryposis, Renal Tubular Disorder and Cholestasis Syndrome
Makaleler > Tam Makale · 2018
Yazarlar: Yelda Türkmenoğlu, Yeşim Acar, Fatih Cemal Özdemir, Ralfi Singer, Afig Berdeli, Servet Erdal Adal
The Journal of Pediatric Research, Uluslararası, 2018, cilt 5, ss 161-163
DOI: 10.4274/jpr.38257
Özet
ABS TRACTArthrogryposis, 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.