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: N Oggiano, A Kantar, E Fabbrizi, F Cutrona, R Pagni, M Gentili, G C Fabrizzi, P L Giorgi
• Journal: Minerva pediatrica (Minerva Pediatr) Vol. 46 Issue 4 Pg. 153-5 (Apr 1994) ISSN: 0026-4946 [Print] Italy
• PMID: 8084322 (Publication Type: Case Reports, Journal Article)

Chemical References

• HLA-DR Antigens

Topics

• Chromosome Aberrations
• Chromosome Disorders
• Ciliary Motility Disorders (complications, genetics)
• Female
• HLA-DR Antigens
• Haplotypes
• Humans
• Infant, Newborn
• Karyotyping
• Radiography
• Respiratory Distress Syndrome, Newborn (diagnostic imaging, etiology)
• Situs Inversus (complications, genetics)
• Turner Syndrome (complications, genetics)
• X Chromosome