Recognition of the clinical signs and symptoms of Joubert syndrome.
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.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008934:Mitogens / Q000235:genetics; D009123:Muscle Hypotonia / Q000235:genetics; D011379:Prognosis; D013577:Syndrome
D008934:Mitogens