Arthrogryposis Renal Dysfunction Cholestasis Syndrome: An Uncommon Presentation in a Newborn
Paramesh Sreekumar
Abstract:A preterm baby born at 35 weeks of gestation was noted to have severe limb deformities suggestive of arthrogryposis along with dysmorphic facies and developed seizures, renal dysfunction in addition to cholestasis. MRI brain showed corpus callosum agenesis. Although there are several isolated cases of arthrogryposis, the association with other congenital anomalies are rarely seen. The constellation of anomalies noted in this case along with renal tubular dysfunction and direct hyperbilirubinemia with normal GG… Show more
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