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.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177261 | PMC |
http://dx.doi.org/10.1016/j.jpeds.2014.06.048 | DOI Listing |
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