Joubert Syndrome is a rare, autosomal recessive disorder that affects the cerebellum and brain stem. It presents with a distinct respiratory pattern and profound tachypnea in the newborn period.

The bedside care provider may be the first to suspect that an infant has a syndrome. In addition to a sensitive and careful history and physical examination, systematic documentation of physical ...

In the past year alone, next-gen sequencers powered major strides in the 1000 Genomes Project and the Human Microbiome Project; identified the genes underlying Mendelian disorders like Joubert ...