A Rare Case of Cholestasis: Arthrogryposis, Renal Tubular Disorder and Cholestasis Syndrome
Makaleler > Tam Makale · 2018
Yazarlar: Yelda Turkmenoglu, Yesim Acar, Fatih Cemal Ozdemir, Ralfi Singer, Afig BERDELİ, Servet Erdal Adal
JOURNAL OF PEDIATRIC RESEARCH, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2018, cilt 5, ss 161-163
DOI: 10.4274/jpr.38257
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.