Respiratory distress in a newborn with primary ciliary dyskinesia, situs inversus and Turner syndrome.
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.
Oggiano
N
N
Department of Pediatrics, University of Ancona, Salesi Hospital.
Kantar
A
A
Fabbrizi
E
E
Cutrona
F
F
Pagni
R
R
Gentili
M
M
Fabrizzi
G C
GC
Giorgi
P L
PL
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
D006684:HLA-DR Antigens