A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network

A 5-year-old boy presented to the Undiagnosed Diseases Network (UDN) with a history of global developmental delay, postnatal microcephaly, hypotonia, jerking movements concerning for seizures, minimal speech, severe gastroesophageal reflux disease, dysmorphic features, and partial agenesis of the corpus callosum on brain magnetic resonance imaging.

Source: The Journal of Pediatrics - January 11, 2018 Category: Pediatrics Authors: Chloe M. Reuter, Elise Brimble, Colette DeFilippo, Annika M. Dries, Undiagnosed Diseases Network, Gregory M. Enns, Euan A. Ashley, Jonathan A. Bernstein, Paul Graham Fisher, Matthew T. Wheeler Tags: Grand rounds Source Type: research