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  • Title: [Neonatal diagnosis of primary ciliary dyskinesia. Recent advances].
    Author: Palumbo E.
    Journal: Recenti Prog Med; 2008 Apr; 99(4):207-9. PubMed ID: 18595635.
    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.
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