A Newborn Infant with Tachypnea
AbstractThe paper presents a case of rare disease – Joubert syndrome, in a patient from Guatemala. The patient presentation characterized by persistent periodic tachypnea in newborn period, which eventually lead to the diagnosis. The disease has multiorgan involvement with the major impacts on brain and kidney. Early recognition of that rare disorder might substantially impacts treatment and outcome. The management of Joubert syndrome requires multidisciplinary team.
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