title: [Neonatal diagnosis of primary ciliary dyskinesia. Recent advances].
abstract: Primary ciliary dyskinesia is a rare, autosomal recessive genetic disease resulting of an abnormal ultrastructural morphology of cilia. Such disease is rarely recognized in neonatal period. Recently, unexplained neonatal respiratory distress has been found to be a common clinical presentation of patients with primary ciliary dyskinesia, indicating that this is an important symptom in early life for this condition. The diagnosis requires a high index of suspicion, but this disease must be considered in any newborn at term who develops unexplained respiratory distress, particularly when situs viscerum inversus is present.
authors.forename: Emilio
authors.initials: E
authors.lastname: Palumbo
mesh_terms: D003371:Cough / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000150:complications* / Q000175:diagnosis*; D009079:Mucociliary Clearance; D010033:Otitis Media / Q000209:etiology; D017410:Practice Guidelines as Topic; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology*; D012857:Situs Inversus / Q000150:complications