Wide Spectrum of Clinical Features in a Case of Arthrogryposis-Renal Tubular Dysfunction-Cholestasis Syndrome

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome is a rare multisystem disorder, originally described in 1973 and to date only 62 patients have been reported. Herein, we reported on a neonate with arthrogryposis-renal tubular dysfunction-cholestasis syndrome presenting very early after birth. Recurrent febrile illnesses, failure to thrive, ichthyosis, hypothyroidism, and bilateral hearing loss were among other associated findings. Blood films revealed abnormally large platelets. Polyhydramnios, hybrid type of renal tubular acidosis and hypothyroidism found in this case are not usually seen. We propose to expand the acronym of this syndrome and name it as arthrogryposis-renal dysfunction-cholestasis-hypothyroidism-ichthyosis-deafness or dysmorphic features syndrome.