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J Pediatr. 2014 Oct;165(4):858-61. doi: 10.1016/j.jpeds.2014.06.048. Epub 2014 Jul 25.

Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.

Author information

1
Montreal Children's Hospital, McGill University, Quebec, Canada; Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
2
Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC.
3
Seattle Children's Hospital and Department of Pediatrics, University of Washington School of Medicine, Seattle, WA.
4
MRC-Holland, Amsterdam, The Netherlands.
5
Department of Medicine, University of North Carolina, Chapel Hill, NC.
6
Department of Pediatrics, University of North Carolina, Chapel Hill, NC.

Abstract

Cri du chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion attributable to CdCS on the opposite chromosome. Chronic oto-sino-pulmonary symptoms or organ laterality defects in CdCS should prompt an evaluation for PCD.

PMID:
25066065
PMCID:
PMC4177261
DOI:
10.1016/j.jpeds.2014.06.048
[Indexed for MEDLINE]
Free PMC Article

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