Ontology highlight
ABSTRACT:
SUBMITTER: Gupta V
PROVIDER: S-EPMC6088285 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Gupta Vishal V Pandita Aakash A Panghal Astha A Kallem Venkat V
BMJ case reports 20180809
We report a case of a term baby presenting with neonatal cholestasis and upper limb flexion deformity on day 4 of life. On further evaluation, high gamma glutamyl transpeptidase (GGT) levels and absent left kidney were found. A diagnosis of arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome was made which is a rare autosomal recessive disorder with primarily clinical diagnosis. Outcome of this condition is dismal. It has a large spectrum of clinical manifestations, but association ...[more]