Abstract
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. This article provides an overview of the condition and discusses the embryologic origins of this syndrome. A focused history and systematic physical assessment provide a step-by-step guide to enhance the early recognition of clinical signs and symptoms of this disorder. A series of clinical photographs and a brief case report offer insight into the classic presentation of this uncommon disorder. The diagnosis of Joubert syndrome is confirmed with magnetic resonance imaging, which reveals a classic neuroradiologic finding, characterized as the molar tooth sign. A discussion of the range of developmental outcomes and complex multispecialty care and intensive support that these infants and their families require is also provided.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
More From: Advances in neonatal care : official journal of the National Association of Neonatal Nurses
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.