title: Respiratory distress in a newborn with primary ciliary dyskinesia, situs inversus and Turner syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Ancona, Salesi Hospital.
authors.forename: N
authors.initials: N
authors.lastname: Oggiano
authors.forename: A
authors.initials: A
authors.lastname: Kantar
authors.forename: E
authors.initials: E
authors.lastname: Fabbrizi
authors.forename: F
authors.initials: F
authors.lastname: Cutrona
authors.forename: R
authors.initials: R
authors.lastname: Pagni
authors.forename: M
authors.initials: M
authors.lastname: Gentili
authors.forename: G C
authors.initials: GC
authors.lastname: Fabrizzi
authors.forename: P L
authors.initials: PL
authors.lastname: Giorgi
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002925:Ciliary Motility Disorders / Q000150:complications* / Q000235:genetics; D005260:Female; D006684:HLA-DR Antigens; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011859:Radiography; D012127:Respiratory Distress Syndrome, Newborn / Q000000981:diagnostic imaging / Q000209:etiology*; D012857:Situs Inversus / Q000150:complications* / Q000235:genetics; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics; D014960:X Chromosome
chemical_list: D006684:HLA-DR Antigens