| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 4164965 | The Journal of Pediatrics | 2014 | 4 Pages |
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.
Related Topics
Health Sciences
Medicine and Dentistry
Perinatology, Pediatrics and Child Health
Authors
Adam J. Shapiro, Karen E. Weck, Kay C. Chao, Margaret Rosenfeld, Anders O.H. Nygren, Michael R. Knowles, Margaret W. Leigh, Maimoona A. Zariwala,