Respiratory distress in a newborn with primary ciliary dyskinesia, situs inversus and Turner syndrome
Oggiano, N.; Kantar, A.; Fabbrizi, E.; Cutrona, F.; Pagni, R.; Gentili, M.; Fabrizzi, G.C.; Giorgi, P.L.
Minerva Pediatrica 46(4): 153-155
1994
ISSN/ISBN: 0026-4946 PMID: 8084322 Document Number: 428757
A report is given of a newborn girl with situs inversus and Turner syndrome that presented respiratory distress. The patient had a mosaic karyotype 45,X/46,X + mar (80%/20%). Ciliary motion analysis demonstrated a total absence of ciliary motion whereas, ultrastructural studies revealed typical features of primary ciliary dyskinesia (PCD) (absence or short outer/inner dynein arms in 90% of the cilia). We regard this rare combination (PCD, situs inversus and Turner syndrome) as a coincidental occurrence.