Published in
Elsevier, Journal of Pediatrics, 4(165), p. 858-861, 2014
DOI: 10.1016/j.jpeds.2014.06.048
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- [www.ncbi.nlm.nih.gov] | PDF
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- [www.researchgate.net] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
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Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p
Journal article published in 2014 by
Adam J. Shapiro 
,
Karen E. Weck,
Kay C. Chao,
Margaret Rosenfeld,
Anders O. H. Nygren,
Michael R. Knowles,
Margaret W. Leigh,
Maimoona A. Zariwala
,
Karen E. Weck,
Kay C. Chao,
Margaret Rosenfeld,
Anders O. H. Nygren,
Michael R. Knowles,
Margaret W. Leigh,
Maimoona A. Zariwala
This paper is available in a repository.
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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.